Hugo_Symbol Entrez_Gene_Id Center NCBI_Build Chromosome Start_position End_position Strand Variant_Classification Variant_Type Reference_Allele Tumor_Seq_Allele1 Tumor_Seq_Allele2 dbSNP_RS dbSNP_Val_Status Tumor_Sample_Barcode Matched_Norm_Sample_Barcode Match_Norm_Seq_Allele1 Match_Norm_Seq_Allele2 Tumor_Validation_Allele1 Tumor_Validation_Allele2 Match_Norm_Validation_Allele1 Match_Norm_Validation_Allele2 Verification_Status Validation_Status Mutation_Status Sequencing_Phase Sequence_Source Validation_Method Score BAM_file Sequencer Tumor_Sample_UUID Matched_Norm_Sample_UUID Genome_Change Annotation_Transcript Transcript_Strand Transcript_Exon Transcript_Position cDNA_Change Codon_Change Protein_Change Other_Transcripts Refseq_mRNA_Id Refseq_prot_Id SwissProt_acc_Id SwissProt_entry_Id Description UniProt_AApos UniProt_Region UniProt_Site UniProt_Natural_Variations UniProt_Experimental_Info GO_Biological_Process GO_Cellular_Component GO_Molecular_Function COSMIC_overlapping_mutations COSMIC_fusion_genes COSMIC_tissue_types_affected COSMIC_total_alterations_in_gene Tumorscape_Amplification_Peaks Tumorscape_Deletion_Peaks TCGAscape_Amplification_Peaks TCGAscape_Deletion_Peaks DrugBank ref_context gc_content CCLE_ONCOMAP_overlapping_mutations CCLE_ONCOMAP_total_mutations_in_gene CGC_Mutation_Type CGC_Translocation_Partner CGC_Tumor_Types_Somatic CGC_Tumor_Types_Germline CGC_Other_Diseases DNARepairGenes_Role FamilialCancerDatabase_Syndromes MUTSIG_Published_Results OREGANNO_ID OREGANNO_Values t_alt_count t_ref_count validation_alt_allele validation_method validation_status validation_tumor_sample pox qox pox_cutoff isArtifactMode oxoGCut HCP5 10866 broad.mit.edu 37 6 31431770 31431770 + RNA SNP A A G TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr6:31431770A>G ENST00000414046.2 + 0 842 NR_040662.1 Q6MZN7 HCP5_HUMAN defense response p.N109D(1) urinary_tract(1) 1 catactgtccaattcccctgt 0.537000 53 76 0 0 0.139131 0 0 GPR135 64582 broad.mit.edu 37 14 59930507 59930507 + Missense_Mutation SNP C C T TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr14:59930507C>T ENST00000395116.1 - 1 1553 c.1438G>A c.(1438-1440)Gca>Aca p.A480T NM_022571.5 NP_072093.2 Q8IZ08 GP135_HUMAN G protein-coupled receptor 135 480 integral to membrane|plasma membrane G-protein coupled receptor activity p.A480T(1) breast(1)|endometrium(1)|large_intestine(1)|liver(1)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 13 OV - Ovarian serous cystadenocarcinoma(108;0.134) TTGGTCACTGCCGTCACCGGC 0.547000 7 20 0 0 0.038147 0 0 SPEF2 79925 broad.mit.edu 37 5 35753786 35753786 + Missense_Mutation SNP C C T TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr5:35753786C>T ENST00000440995.2 + 24 3376 c.3376C>T c.(3376-3378)Cgg>Tgg p.R1126W SPEF2_ENST00000356031.3_Missense_Mutation_p.R1131W|CTD-2113L7.1_ENST00000510433.1_RNA Q9C093 SPEF2_HUMAN sperm flagellar 2 1131 nucleobase, nucleoside, nucleotide and nucleic acid metabolic process ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity p.R1131W(1) breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 37 all_lung(31;7.56e-05) Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202) GGAGCAGGAGCGGCTTGACAT 0.483000 10 377 0 0 0.132662 0 0 GPR112 139378 broad.mit.edu 37 X 135429691 135429691 + Missense_Mutation SNP G G C TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chrX:135429691G>C ENST00000394143.1 + 6 4117 c.3826G>C c.(3826-3828)Gaa>Caa p.E1276Q GPR112_ENST00000412101.1_Missense_Mutation_p.E1071Q|GPR112_ENST00000370652.1_Missense_Mutation_p.E1276Q|GPR112_ENST00000287534.4_Missense_Mutation_p.E1213Q|GPR112_ENST00000394141.1_Missense_Mutation_p.E1071Q NM_153834.3 NP_722576.3 Q8IZF6 GP112_HUMAN G protein-coupled receptor 112 1276 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity p.E1276Q(1) NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2) 199 Acute lymphoblastic leukemia(192;0.000127) GGAGGTGACAGAAATGTCCCC 0.438000 59 117 0 0 0.139131 0 0 EXO5 64789 broad.mit.edu 37 1 40981078 40981078 + Missense_Mutation SNP G G T TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr1:40981078G>T ENST00000372703.1 + 2 1936 c.862G>T c.(862-864)Gat>Tat p.D288Y EXO5_ENST00000296380.4_Missense_Mutation_p.D288Y|EXO5_ENST00000358527.2_Missense_Mutation_p.D288Y exonuclease 5 p.D288Y(1) CCCAGTTATTGATATCTTGAA 0.493000 16 362 1.01871e-10 1.12483e-10 0.049695 1 0 LCE1F 353137 broad.mit.edu 37 1 152749146 152749146 + Nonsense_Mutation SNP C C G TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr1:152749146C>G ENST00000334371.2 + 1 299 c.299C>G c.(298-300)tCa>tGa p.S100* NM_178354.2 NP_848131.1 Q5T754 LCE1F_HUMAN late cornified envelope 1F 100 keratinization p.S100*(1) kidney(1)|large_intestine(2)|lung(7)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 15 Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.206) AGCCAGCCCTCAGCGGGCTCC 0.642000 6 47 0 0 0.038147 0 0 CUBN 8029 broad.mit.edu 37 10 16911847 16911847 + Missense_Mutation SNP C C G TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr10:16911847C>G ENST00000377833.4 - 59 9307 c.9242G>C c.(9241-9243)aGt>aCt p.S3081T NM_001081.3 NP_001072.2 O60494 CUBN_HUMAN cubilin (intrinsic factor-cobalamin receptor) 3081 CUB 23. cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity p.S3081T(1) breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8) 241 Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200) ATCAAAATCACTGAACCTGTG 0.413000 12 64 0 0 0.093190 0 0 TBC1D9B 23061 broad.mit.edu 37 5 179292339 179292339 + Missense_Mutation SNP G G A TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr5:179292339G>A ENST00000356834.3 - 21 3024 c.2987C>T c.(2986-2988)cCg>cTg p.P996L TBC1D9B_ENST00000519746.1_Missense_Mutation_p.P155L|TBC1D9B_ENST00000518085.1_5'UTR|TBC1D9B_ENST00000355235.3_Missense_Mutation_p.P979L|TBC1D9B_ENST00000444477.2_Missense_Mutation_p.P137L NM_198868.2 NP_942568.2 Q66K14 TBC9B_HUMAN TBC1 domain family, member 9B (with GRAM domain) 996 integral to membrane|intracellular calcium ion binding|Rab GTPase activator activity p.P996L(1)|p.P979L(1) breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 28 all_cancers(89;0.000197)|all_epithelial(37;6.84e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243) all_cancers(40;0.0236)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) CCGATAGTCCGGAGAGCTGGT 0.537000 7 118 0 0 0.058154 0 0 TRRAP 8295 broad.mit.edu 37 7 98547739 98547739 + Missense_Mutation SNP G G C TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr7:98547739G>C ENST00000359863.4 + 37 5376 c.5167G>C c.(5167-5169)Ggt>Cgt p.G1723R TRRAP_ENST00000446306.3_Missense_Mutation_p.G1704R|TRRAP_ENST00000355540.3_Missense_Mutation_p.G1705R NM_001244580.1 NP_001231509.1 Q9Y4A5 TRRAP_HUMAN transformation/transcription domain-associated protein 1723 histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity p.G1705R(1)|p.G1723R(1) NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2) 176 all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274) STAD - Stomach adenocarcinoma(171;0.215) AGCCTTTACTGGTCGTTTTCT 0.413000 10 201 0 0 0.069234 0 0 SLITRK6 84189 broad.mit.edu 37 13 86369424 86369424 + Missense_Mutation SNP A A C TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr13:86369424A>C ENST00000400286.2 - 2 1818 c.1220T>G c.(1219-1221)tTt>tGt p.F407C NM_032229.2 NP_115605.2 Q9H5Y7 SLIK6_HUMAN SLIT and NTRK-like family, member 6 407 integral to membrane p.F407C(1) breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(18)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 all_neural(89;0.117)|Medulloblastoma(90;0.163) GBM - Glioblastoma multiforme(99;0.0456) TAGGTTCATAAACGATCCTTC 0.338000 30 101 0 0 0.134883 0 0 TLR8 51311 broad.mit.edu 37 X 12939592 12939592 + Silent SNP G G A TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chrX:12939592G>A ENST00000218032.6 + 2 2520 c.2433G>A c.(2431-2433)ggG>ggA p.G811G TLR8_ENST00000311912.5_Silent_p.G829G NM_138636.4 NP_619542.1 Q9NR97 TLR8_HUMAN toll-like receptor 8 811 LRRCT. cellular response to mechanical stimulus|defense response to virus|I-kappaB kinase/NF-kappaB cascade|immunoglobulin mediated immune response|inflammatory response|innate immune response|positive regulation of innate immune response|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-8 biosynthetic process endosome membrane DNA binding|double-stranded RNA binding|single-stranded RNA binding|transmembrane receptor activity p.G829G(1) breast(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 50 ATCAAAGAGGGAAGAGTATTG 0.418000 30 186 0 0 0.045705 0 0 MYO1D 4642 broad.mit.edu 37 17 31092057 31092057 + Missense_Mutation SNP C C T TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr17:31092057C>T ENST00000318217.5 - 8 1178 c.874G>A c.(874-876)Gag>Aag p.E292K MYO1D_ENST00000579584.1_Missense_Mutation_p.E292K|MYO1D_ENST00000583621.1_Missense_Mutation_p.E292K|MYO1D_ENST00000394649.4_Missense_Mutation_p.E204K NM_015194.1 NP_056009.1 O94832 MYO1D_HUMAN myosin ID 292 Myosin head-like. myosin complex actin binding|ATP binding|calmodulin binding p.E292K(1) breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(14)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 39 BRCA - Breast invasive adenocarcinoma(9;0.0362) TTGCCATTCTCAATAAGAGGC 0.368000 7 350 0 0 0.038147 0 0 NUP43 348995 broad.mit.edu 37 6 150067104 150067104 + Missense_Mutation SNP C C G TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr6:150067104C>G ENST00000340413.2 - 2 291 c.215G>C c.(214-216)aGa>aCa p.R72T NUP43_ENST00000367404.4_Missense_Mutation_p.R72T|NUP43_ENST00000460354.2_Missense_Mutation_p.R72T|NUP43_ENST00000463048.3_5'UTR|NUP43_ENST00000367403.3_Missense_Mutation_p.R133T NM_198887.1 NP_942590.1 Q8NFH3 NUP43_HUMAN nucleoporin 43kDa 72 carbohydrate metabolic process|cell division|chromosome segregation|glucose transport|mitotic prometaphase|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction condensed chromosome kinetochore|cytosol|Nup107-160 complex protein binding p.R72T(1) breast(1)|large_intestine(2)|lung(8)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 18 Ovarian(120;0.0164) OV - Ovarian serous cystadenocarcinoma(155;4.71e-13)|GBM - Glioblastoma multiforme(68;0.101) ACCATGGTGTCTGATATCACA 0.368000 31 160 0 0 0.045705 0 0 BAHD1 22893 broad.mit.edu 37 15 40758317 40758317 + Missense_Mutation SNP G G C TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr15:40758317G>C ENST00000561234.1 + 7 2587 c.2328G>C c.(2326-2328)aaG>aaC p.K776N RP11-64K12.8_ENST00000559730.1_RNA|BAHD1_ENST00000416165.1_Missense_Mutation_p.K777N|BAHD1_ENST00000560846.1_Missense_Mutation_p.K774N Q8TBE0 BAHD1_HUMAN bromo adjacent homology domain containing 1 777 BAH. heterochromatin formation|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent chromatin silencing complex|chromosome chromatin binding|DNA binding|protein binding p.K777N(1) NS(1)|endometrium(6)|kidney(3)|large_intestine(3)|lung(10)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1) 28 all_cancers(109;8.28e-19)|all_epithelial(112;2.64e-15)|Lung NSC(122;5.14e-11)|all_lung(180;1.27e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117) GBM - Glioblastoma multiforme(113;3.46e-06)|BRCA - Breast invasive adenocarcinoma(123;0.08) GCATCCTTAAGAACCCCCAGT 0.627000 15 43 0 0 0.055883 0 0 C3orf35 339883 broad.mit.edu 37 3 37458815 37458815 + Missense_Mutation SNP G G C TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr3:37458815G>C ENST00000328376.5 + 5 1037 c.58G>C c.(58-60)Gaa>Caa p.E20Q C3orf35_ENST00000426078.1_Missense_Mutation_p.E20Q|C3orf35_ENST00000425932.1_Missense_Mutation_p.E20Q|C3orf35_ENST00000425564.2_Missense_Mutation_p.E20Q|C3orf35_ENST00000452017.2_Missense_Mutation_p.E20Q|C3orf35_ENST00000481400.1_Intron NM_178339.2 NP_848029.2 Q8IVJ8 APRG1_HUMAN chromosome 3 open reading frame 35 20 integral to membrane p.E20Q(1) NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(2)|ovary(1)|pancreas(1)|urinary_tract(1) 11 CCCAGAATTTGAAAATGTGAT 0.398000 7 116 0 0 0.029380 0 0 TARS2 80222 broad.mit.edu 37 1 150477198 150477198 + Silent SNP C C T TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr1:150477198C>T ENST00000369064.3 + 15 1843 c.1809C>T c.(1807-1809)tgC>tgT p.C603C TARS2_ENST00000369054.2_Silent_p.C473C|TARS2_ENST00000606933.1_Silent_p.C521C NM_025150.3 NP_079426.2 Q9BW92 SYTM_HUMAN threonyl-tRNA synthetase 2, mitochondrial (putative) 603 threonyl-tRNA aminoacylation mitochondrial matrix ATP binding|threonine-tRNA ligase activity p.C603C(2) cervix(1)|endometrium(4)|large_intestine(7)|lung(19)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1) 35 all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171) UCEC - Uterine corpus endometrioid carcinoma (35;0.0757)|all cancers(9;1.51e-21)|BRCA - Breast invasive adenocarcinoma(12;0.000734)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206) L-Threonine(DB00156) CAGAAAGCTGCGGGGGGAAAT 0.567000 19 203 0 0 0.043863 0 0 TPO 7173 broad.mit.edu 37 2 1480894 1480894 + Missense_Mutation SNP T T A TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr2:1480894T>A ENST00000345913.4 + 8 947 c.856T>A c.(856-858)Tgt>Agt p.C286S TPO_ENST00000382198.1_Intron|TPO_ENST00000497517.2_Intron|TPO_ENST00000382201.3_Missense_Mutation_p.C286S|TPO_ENST00000349624.3_Intron|TPO_ENST00000346956.3_Missense_Mutation_p.C286S|TPO_ENST00000329066.4_Missense_Mutation_p.C286S|TPO_ENST00000337415.3_Missense_Mutation_p.C286S NM_000547.5 NP_000538.3 P07202 PERT_HUMAN thyroid peroxidase 286 cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process cell surface|cytoplasm|integral to plasma membrane calcium ion binding|heme binding|iodide peroxidase activity p.C286S(1) breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 95 all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627) all_cancers(51;0.0338) all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12) Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550) GGGCACCGCCTGTCTGCCCTT 0.692000 4 7 0 0 0.029380 0 0 NRIP1 8204 broad.mit.edu 37 21 16338392 16338392 + Nonsense_Mutation SNP C C A TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr21:16338392C>A ENST00000400202.1 - 3 2834 c.2122G>T c.(2122-2124)Gaa>Taa p.E708* NRIP1_ENST00000318948.4_Nonsense_Mutation_p.E708*|NRIP1_ENST00000400199.1_Nonsense_Mutation_p.E708* P48552 NRIP1_HUMAN nuclear receptor interacting protein 1 708 androgen receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent androgen receptor binding|estrogen receptor binding|glucocorticoid receptor binding|transcription coactivator activity|transcription corepressor activity p.E708*(1) cervix(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|lung(13)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4) 39 Epithelial(23;1.19e-05)|all cancers(11;4.64e-05)|COAD - Colon adenocarcinoma(22;0.000232)|Colorectal(24;0.0006)|OV - Ovarian serous cystadenocarcinoma(11;0.00418)|Lung(58;0.199)|LUSC - Lung squamous cell carcinoma(23;0.24) GTACGTCTTTCAAGCAGATTT 0.403000 20 108 4.35082e-09 4.73012e-09 0.055883 1 0 ATP13A3 79572 broad.mit.edu 37 3 194176633 194176633 + Missense_Mutation SNP G G C TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr3:194176633G>C ENST00000439040.1 - 8 1410 c.619C>G c.(619-621)Cta>Gta p.L207V ATP13A3_ENST00000256031.4_Missense_Mutation_p.L207V Q9H7F0 AT133_HUMAN ATPase type 13A3 207 ATP biosynthetic process|cation transport integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding p.L207V(1) NS(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 24 all_cancers(143;6.01e-09)|Ovarian(172;0.0634) Melanoma(1037;0.211) OV - Ovarian serous cystadenocarcinoma(49;3.83e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06) GBM - Glioblastoma multiforme(46;5.98e-05) TCTTTAATTAGAAGCTTAAAA 0.274000 7 197 0 0 0.047766 0 0 EML2 24139 broad.mit.edu 37 19 46117878 46117878 + Missense_Mutation SNP C C G rs35344004 TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr19:46117878C>G ENST00000536630.1 - 20 2257 c.2119G>C c.(2119-2121)Ggg>Cgg p.G707R EML2_ENST00000587152.1_Missense_Mutation_p.G761R|EML2_ENST00000245925.3_Missense_Mutation_p.G560R|EML2_ENST00000589876.1_Missense_Mutation_p.G560R NM_001193269.1 NP_001180198.1 O95834 EMAL2_HUMAN echinoderm microtubule associated protein like 2 560 sensory perception of sound|visual perception cytoplasm|intracellular membrane-bounded organelle|microtubule|microtubule associated complex catalytic activity|protein binding p.G560R(1) NS(1)|breast(2)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(13)|ovary(1)|urinary_tract(1) 31 Ovarian(192;0.179)|all_neural(266;0.224) OV - Ovarian serous cystadenocarcinoma(262;0.00553)|GBM - Glioblastoma multiforme(486;0.131)|Epithelial(262;0.197) ACCCCAAACCCTAGGACACAA 0.542000 42 155 0 0 0.117977 0 0 SCNM1 79005 broad.mit.edu 37 1 151139670 151139670 + Missense_Mutation SNP G G C TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr1:151139670G>C ENST00000368905.4 + 4 396 c.285G>C c.(283-285)ttG>ttC p.L95F SCNM1_ENST00000461862.1_3'UTR NM_001204856.1|NM_024041.3 NP_001191785.1|NP_076946.1 Q9BWG6 SCNM1_HUMAN sodium channel modifier 1 95 mRNA processing|RNA splicing nucleus metal ion binding|protein binding p.L95F(1) breast(1)|endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 17 Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185) UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211) AGAATGAATTGAGAAGGGAAG 0.483000 7 153 0 0 0.047766 0 0 CMC4 100272147 broad.mit.edu 37 X 154292253 154292253 + Missense_Mutation SNP T T G TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chrX:154292253T>G ENST00000369484.3 - 2 724 c.46A>C c.(46-48)Aaa>Caa p.K16Q CMC4_ENST00000369479.1_Missense_Mutation_p.K16Q NM_001018024.2 NP_001018024.1 C-x(9)-C motif containing 4 p.K16Q(1) TGTAAACATTTCTGTATCTCA 0.299000 21 285 0 0 0.055883 0 0 SELRC1 65260 broad.mit.edu 37 1 53153747 53153747 + Missense_Mutation SNP A A G TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr1:53153747A>G ENST00000371538.3 - 3 380 c.341T>C c.(340-342)gTt>gCt p.V114A SELRC1_ENST00000486918.1_5'UTR NM_023077.2 NP_075565.2 Q96BR5 SELR1_HUMAN Sel1 repeat containing 1 114 binding p.V114A(1) breast(1)|lung(3)|prostate(1)|urinary_tract(1) 6 CAGGAGGCCAACGTTGTGACA 0.542000 5 98 0 0 0.014758 0 0 BDP1 55814 broad.mit.edu 37 5 70786810 70786810 + Splice_Site SNP G G C TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr5:70786810G>C ENST00000358731.4 + 11 1755 c.e11-1 BDP1_ENST00000380675.2_Splice_Site NM_018429.2 NP_060899.2 A6H8Y1 BDP1_HUMAN B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter nucleoplasm DNA binding p.?(1) NS(2)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(34)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 72 Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198) OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50) TGTATTTGTAGATAAATGTCA 0.363000 12 42 0 0 0.093190 0 0 DAB1 1600 broad.mit.edu 37 1 57480743 57480743 + Missense_Mutation SNP C C A TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr1:57480743C>A ENST00000371236.2 - 12 1520 c.1257G>T c.(1255-1257)caG>caT p.Q419H DAB1_ENST00000485760.1_5'UTR|DAB1_ENST00000439789.2_Missense_Mutation_p.Q333H|DAB1_ENST00000420954.2_Missense_Mutation_p.Q417H|DAB1_ENST00000371234.4_Missense_Mutation_p.Q419H|DAB1_ENST00000414851.2_Missense_Mutation_p.Q401H|DAB1_ENST00000371231.1_Missense_Mutation_p.Q452H O75553 DAB1_HUMAN Dab, reelin signal transducer, homolog 1 (Drosophila) 452 cell differentiation|nervous system development p.Q419H(1) central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(5) 64 GCTGGGCCATCTGGAAATCCT 0.597000 12 56 1.08611e-07 1.17178e-07 0.080935 1 0 CD200 4345 broad.mit.edu 37 3 112054854 112054854 + Missense_Mutation SNP A A G TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr3:112054854A>G ENST00000473539.1 + 2 134 c.77A>G c.(76-78)aAt>aGt p.N26S CD200_ENST00000315711.8_Intron|CD200_ENST00000383681.3_Intron NM_001004196.2 NP_001004196.2 P41217 OX2G_HUMAN CD200 molecule 0 regulation of immune response integral to plasma membrane p.N26S(1) endometrium(1)|kidney(2)|large_intestine(2)|lung(6)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 16 Acute lymphoblastic leukemia(4;1.7e-08)|all_hematologic(4;8.82e-05) ACCACCATCAATGATTACCAG 0.388000 33 68 0 0 0.054565 0 0 MCPH1 79648 broad.mit.edu 37 8 6312749 6312749 + Missense_Mutation SNP G G C TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr8:6312749G>C ENST00000344683.5 + 9 1987 c.1911G>C c.(1909-1911)ttG>ttC p.L637F NM_024596.3 NP_078872 Q8NEM0 MCPH1_HUMAN microcephalin 1 637 microtubule organizing center p.L637F(1) AGPAT5/MCPH1(2) central_nervous_system(1)|large_intestine(4)|skin(1) 6 Hepatocellular(245;0.0663) Colorectal(4;0.0505) ATGAGGAATTGAAGAAAAGTG 0.368000 24 106 0 0 0.069288 0 0 MAGEF1 64110 broad.mit.edu 37 3 184429334 184429334 + Silent SNP C C T TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr3:184429334C>T ENST00000317897.3 - 1 502 c.276G>A c.(274-276)aaG>aaA p.K92K NM_022149.4 NP_071432.2 Q9HAY2 MAGF1_HUMAN melanoma antigen family F, 1 92 MAGE. p.K92K(1) breast(1)|endometrium(1)|large_intestine(1)|lung(5)|ovary(2)|urinary_tract(1) 11 all_cancers(143;4.61e-11)|Ovarian(172;0.0339)|Breast(254;0.247) Epithelial(37;5.64e-35)|OV - Ovarian serous cystadenocarcinoma(80;2.56e-22) GACTCTTCTTCTTGTCTTTCA 0.582000 5 176 0 0 0.021553 0 0 AXIN2 8313 broad.mit.edu 37 17 63532561 63532561 + Missense_Mutation SNP G G T TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr17:63532561G>T ENST00000307078.5 - 8 2331 c.2018C>A c.(2017-2019)aCc>aAc p.T673N AXIN2_ENST00000375702.5_Missense_Mutation_p.T608N NM_004655.3 NP_004646.3 Q9Y2T1 AXIN2_HUMAN axin 2 673 cellular protein localization|cellular response to organic cyclic compound|dorsal/ventral axis specification|intramembranous ossification|maintenance of DNA repeat elements|mRNA stabilization|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of cell proliferation|negative regulation of osteoblast differentiation|odontogenesis|positive regulation of cell death|positive regulation of epithelial to mesenchymal transition|positive regulation of protein phosphorylation|regulation of centromeric sister chromatid cohesion|regulation of mismatch repair|Wnt receptor signaling pathway involved in somitogenesis Axin-APC-beta-catenin-GSK3B complex|cell cortex|centrosome|cytoplasmic membrane-bounded vesicle|cytoplasmic microtubule|nucleus|plasma membrane|postsynaptic density armadillo repeat domain binding|beta-catenin binding|GTPase activator activity|protein kinase binding|signal transducer activity|ubiquitin protein ligase binding p.T673N(1) NS(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 34 GGCACGGGGGGTGGTGCGGGG 0.682000 Oligodontia, Ectodermal Dysplasia and Colorectal Polyp syndrome 8 31 0.000274275 0.000283641 0.047766 1 0 MBTPS1 8720 broad.mit.edu 37 16 84135448 84135448 + Translation_Start_Site SNP G G C TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr16:84135448G>C ENST00000343411.3 - 0 436 NM_003791.2 NP_003782.1 Q14703 MBTP1_HUMAN membrane-bound transcription factor peptidase, site 1 cholesterol metabolic process|proteolysis endoplasmic reticulum lumen|endoplasmic reticulum membrane|Golgi membrane|integral to membrane serine-type endopeptidase activity NS(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(10)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 41 TTTTCTTCTTGATTAAAAGTG 0.348000 7 35 0 0 0.029380 0 0 ZBTB38 253461 broad.mit.edu 37 3 141162247 141162247 + Silent SNP T T G TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr3:141162247T>G ENST00000514251.1 + 4 1296 c.1017T>G c.(1015-1017)ccT>ccG p.P339P ZBTB38_ENST00000441582.2_Silent_p.P339P|ZBTB38_ENST00000321464.5_Silent_p.P340P Q8NAP3 ZBT38_HUMAN zinc finger and BTB domain containing 38 339 positive regulation of transcription from RNA polymerase II promoter nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.P339P(1) breast(3)|cervix(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1) 41 AGGTTCCACCTCTGGTGTACA 0.498000 7 137 0 0 0.047766 0 0 RGL2 5863 broad.mit.edu 37 6 33261395 33261395 + Missense_Mutation SNP G G C TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr6:33261395G>C ENST00000497454.1 - 14 2085 c.1590C>G c.(1588-1590)atC>atG p.I530M RGL2_ENST00000437840.2_5'UTR|RGL2_ENST00000444031.2_3'UTR|PFDN6_ENST00000463584.1_Intron NM_001243738.1|NM_004761.4 NP_001230667.1|NP_004752.1 O15211 RGL2_HUMAN ral guanine nucleotide dissociation stimulator-like 2 530 Ras protein signal transduction|regulation of small GTPase mediated signal transduction intracellular Ras guanyl-nucleotide exchange factor activity p.I530M(1) breast(2)|cervix(2)|endometrium(7)|kidney(2)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1) 34 TCCACTGCGAGATGACCAATG 0.572000 10 40 0 0 0.105934 0 0 SLCO1B3 28234 broad.mit.edu 37 12 21028199 21028199 + Missense_Mutation SNP G G C TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr12:21028199G>C ENST00000381545.3 + 9 977 c.758G>C c.(757-759)cGt>cCt p.R253P SLCO1B3_ENST00000261196.2_Missense_Mutation_p.R253P|SLCO1B3_ENST00000553473.1_Missense_Mutation_p.R253P|LST3_ENST00000381541.3_Intron|SLCO1B7_ENST00000554957.1_Intron|LST3_ENST00000540229.1_Missense_Mutation_p.R253P NM_019844.3 NP_062818.1 Q9NPD5 SO1B3_HUMAN solute carrier organic anion transporter family, member 1B3 253 bile acid metabolic process|sodium-independent organic anion transport basolateral plasma membrane|cytoplasm|integral to plasma membrane bile acid transmembrane transporter activity|organic anion transmembrane transporter activity p.R253P(1)|p.R253L(1) breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(23)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(2) 63 Esophageal squamous(101;0.149) AAGGACTCTCGTTGGGTTGGA 0.378000 42 272 0 0 0.111260 0 0 GBF1 8729 broad.mit.edu 37 10 104139673 104139673 + Missense_Mutation SNP G G C TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr10:104139673G>C ENST00000369983.3 + 36 5097 c.4837G>C c.(4837-4839)Gag>Cag p.E1613Q NM_001199378.1|NM_001199379.1|NM_004193.2 NP_001186307.1|NP_001186308.1|NP_004184.1 Q92538 GBF1_HUMAN golgi brefeldin A resistant guanine nucleotide exchange factor 1 1613 COPI coating of Golgi vesicle|post-Golgi vesicle-mediated transport|regulation of ARF protein signal transduction|retrograde vesicle-mediated transport, Golgi to ER Golgi membrane ARF guanyl-nucleotide exchange factor activity|protein binding p.E1613Q(1) NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(14)|kidney(8)|large_intestine(15)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(2) 71 Colorectal(252;0.0236) Epithelial(162;5.16e-08)|all cancers(201;1.19e-06) GGGTGGGATGGAGGAGACCCG 0.547000 6 32 0 0 0.029380 0 0 STRIP2 57464 broad.mit.edu 37 7 129110495 129110495 + Nonsense_Mutation SNP C C G TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr7:129110495C>G ENST00000249344.2 + 18 1923 c.1883C>G c.(1882-1884)tCa>tGa p.S628* STRIP2_ENST00000435494.2_Nonsense_Mutation_p.S628* NM_020704.2 NP_065755.1 striatin interacting protein 2 p.S628*(1) TACAGCATCTCAGTCCTGGAT 0.463000 4 42 0 0 0.009096 0 0 KIF15 56992 broad.mit.edu 37 3 44846547 44846547 + Missense_Mutation SNP G G C TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr3:44846547G>C ENST00000326047.4 + 15 1865 c.1716G>C c.(1714-1716)caG>caC p.Q572H KIF15_ENST00000425755.1_Missense_Mutation_p.Q207H NM_020242.2 NP_064627.1 Q9NS87 KIF15_HUMAN kinesin family member 15 572 blood coagulation|cell proliferation|microtubule-based movement|mitosis centrosome|cytosol|microtubule|plus-end kinesin complex|spindle ATP binding|DNA binding|microtubule motor activity p.Q572H(1) breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|liver(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(5) 36 BRCA - Breast invasive adenocarcinoma(193;0.0099)|KIRC - Kidney renal clear cell carcinoma(197;0.0564)|Kidney(197;0.0707) CTAAAGCTCAGAAAGAGCCAT 0.368000 15 59 0 0 0.146539 0 0 ZBP1 81030 broad.mit.edu 37 20 56186846 56186846 + Missense_Mutation SNP C C G TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr20:56186846C>G ENST00000340462.4 - 5 1022 c.742G>C c.(742-744)Gag>Cag p.E248Q ZBP1_ENST00000343535.4_Missense_Mutation_p.E271Q|ZBP1_ENST00000371173.3_Missense_Mutation_p.E271Q|ZBP1_ENST00000395822.3_Missense_Mutation_p.E196Q Q9H171 ZBP1_HUMAN Z-DNA binding protein 1 271 cytoplasm|nucleus double-stranded RNA adenosine deaminase activity|left-handed Z-DNA binding|RNA binding p.E271Q(1) large_intestine(11)|lung(8)|ovary(4)|prostate(1)|skin(2)|urinary_tract(1) 27 Lung NSC(12;0.000545)|all_lung(29;0.00195)|Melanoma(10;0.242) BRCA - Breast invasive adenocarcinoma(13;7.87e-13)|Epithelial(14;3.26e-09)|all cancers(14;3.62e-08) AGCCTCATCTCATTGCTGTGT 0.632000 5 20 0 0 0.014758 0 0 EZH1 2145 broad.mit.edu 37 17 40874816 40874816 + Missense_Mutation SNP C C G TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr17:40874816C>G ENST00000428826.2 - 6 605 c.484G>C c.(484-486)Gaa>Caa p.E162Q EZH1_ENST00000415827.2_Missense_Mutation_p.E153Q|EZH1_ENST00000592743.1_Missense_Mutation_p.E162Q|EZH1_ENST00000435174.1_Intron|EZH1_ENST00000590078.1_Missense_Mutation_p.E92Q|EZH1_ENST00000585893.1_Missense_Mutation_p.E122Q Q92800 EZH1_HUMAN enhancer of zeste homolog 1 (Drosophila) 162 anatomical structure morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent ESC/E(Z) complex chromatin binding|DNA binding p.E162Q(1) breast(1)|endometrium(4)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|skin(1)|urinary_tract(2) 27 Breast(137;0.00104) BRCA - Breast invasive adenocarcinoma(366;0.0784) CCACTACCTTCTTCACCATGG 0.403000 3 95 0 0 0.115264 0 0 SKIL 6498 broad.mit.edu 37 3 170078501 170078501 + Missense_Mutation SNP C C G TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr3:170078501C>G ENST00000458537.3 + 1 1091 c.382C>G c.(382-384)Cag>Gag p.Q128E SKIL_ENST00000426052.2_Missense_Mutation_p.Q108E|SKIL_ENST00000413427.2_Missense_Mutation_p.Q128E|SKIL_ENST00000259119.4_Missense_Mutation_p.Q128E NM_001145097.2|NM_001248008.1|NM_005414.4 NP_001138569.1|NP_001234937.1|NP_005405.2 P12757 SKIL_HUMAN SKI-like oncogene 128 cell cycle arrest|negative regulation of cell differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of axonogenesis|protein heterotrimerization|protein homotrimerization|regulation of apoptosis|response to antibiotic|response to growth factor stimulus|skeletal muscle tissue development cytoplasm|PML body chromatin binding|nucleotide binding|protein complex binding|protein domain specific binding|SMAD binding|transcription corepressor activity|transcription repressor activity p.Q128E(1) cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(12)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 25 all_cancers(22;7.13e-23)|all_epithelial(15;9.95e-28)|all_lung(20;1.23e-16)|Lung NSC(18;5.15e-16)|Ovarian(172;0.000337)|Breast(254;0.137) Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.197) TCCATCACCTCAGGTTCTTCC 0.488000 27 353 0 0 0.108266 0 0 ACTL9 284382 broad.mit.edu 37 19 8808755 8808755 + Silent SNP G G C TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr19:8808755G>C ENST00000324436.3 - 1 417 c.297C>G c.(295-297)ggC>ggG p.G99G NM_178525.3 NP_848620.3 Q8TC94 ACTL9_HUMAN actin-like 9 99 cytoplasm|cytoskeleton p.G99G(1) NS(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(15)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1) 36 GGGCTGCCTCGCCGATGAACG 0.706000 3 18 0 0 0.115264 0 0 WDR24 84219 broad.mit.edu 37 16 737292 737292 + Missense_Mutation SNP C C T TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr16:737292C>T ENST00000293883.4 - 3 1543 c.784G>A c.(784-786)Gag>Aag p.E262K WDR24_ENST00000248142.6_Missense_Mutation_p.E392K NM_032259.2 NP_115635.1 Q96S15 WDR24_HUMAN WD repeat domain 24 348 p.E262K(1)|p.E392K(1) breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|urinary_tract(3) 19 Hepatocellular(780;0.0218) TGGCGGCACTCTGGCCGCCAC 0.617000 4 15 0 0 0.029380 0 0 FLG 2312 broad.mit.edu 37 1 152281252 152281252 + Missense_Mutation SNP C C T TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr1:152281252C>T ENST00000368799.1 - 3 6145 c.6110G>A c.(6109-6111)cGa>cAa p.R2037Q FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA NM_002016.1 NP_002007.1 P20930 FILA_HUMAN filaggrin 2037 Ser-rich. keratinocyte differentiation cytoplasmic membrane-bounded vesicle|intermediate filament calcium ion binding|structural molecule activity p.R2037Q(1) autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12) 424 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) ACTGTACCCTCGGTGTCCACT 0.557000 Ichthyosis 27 1202 0 0 0.055883 0 0 MCTS1 28985 broad.mit.edu 37 X 119742109 119742109 + Missense_Mutation SNP G G C TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chrX:119742109G>C ENST00000371315.3 + 4 828 c.295G>C c.(295-297)Gat>Cat p.D99H MCTS1_ENST00000487133.1_3'UTR|MCTS1_ENST00000371317.5_Missense_Mutation_p.D98H NM_001137554.1 NP_001131026.1 Q9ULC4 MCTS1_HUMAN malignant T cell amplified sequence 1 98 PUA. cell cycle|positive regulation of cell proliferation|regulation of growth|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent cytoplasm RNA binding p.D98H(1)|p.D99H(1) breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|stomach(1)|urinary_tract(1) 10 CCAGCAGGTTGATAAAGGAGC 0.383000 12 101 0 0 0.093190 0 0 ICA1L 130026 broad.mit.edu 37 2 203650667 203650667 + Nonsense_Mutation SNP G G C TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr2:203650667G>C ENST00000392237.2 - 13 1464 c.1307C>G c.(1306-1308)tCa>tGa p.S436* ICA1L_ENST00000358299.2_Nonsense_Mutation_p.S436* NM_138468.4 NP_612477.3 Q8NDH6 ICA1L_HUMAN islet cell autoantigen 1,69kDa-like 436 p.S436*(1) breast(1)|endometrium(1)|large_intestine(7)|lung(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 22 TGGACTCTGTGAAGGCACTGG 0.323000 14 74 0 0 0.033300 0 0 RYR1 6261 broad.mit.edu 37 19 39063871 39063871 + Missense_Mutation SNP G G C TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr19:39063871G>C ENST00000355481.4 + 95 14169 c.14038G>C c.(14038-14040)Gat>Cat p.D4680H RYR1_ENST00000360985.3_Missense_Mutation_p.D4680H|RYR1_ENST00000359596.3_Missense_Mutation_p.D4685H NM_000540.2|NM_001042723.1 NP_000531.2|NP_001036188.1 P21817 RYR1_HUMAN ryanodine receptor 1 (skeletal) 4685 muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity p.D4685H(1) NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7) 285 all_cancers(60;7.91e-06) Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272) Dantrolene(DB01219) GCTGGAGTTTGATGGCCTGTA 0.617000 5 92 0 0 0.014758 0 0 FLG 2312 broad.mit.edu 37 1 152287037 152287037 + Missense_Mutation SNP T T C TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr1:152287037T>C ENST00000368799.1 - 3 360 c.325A>G c.(325-327)Aaa>Gaa p.K109E FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000420707.1_RNA NM_002016.1 NP_002007.1 P20930 FILA_HUMAN filaggrin 109 keratinocyte differentiation cytoplasmic membrane-bounded vesicle|intermediate filament calcium ion binding|structural molecule activity p.K109E(1) autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12) 424 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) TCTTCATGTTTATCATGATGA 0.358000 Ichthyosis 15 253 0 0 0.119110 0 0 PLAGL2 5326 broad.mit.edu 37 20 30784748 30784748 + Missense_Mutation SNP G G C TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr20:30784748G>C ENST00000246229.4 - 3 1262 c.998C>G c.(997-999)tCt>tGt p.S333C NM_002657.3 NP_002648.1 Q9UPG8 PLAL2_HUMAN pleiomorphic adenoma gene-like 2 333 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.S333C(1) breast(1)|cervix(1)|endometrium(2)|kidney(2)|liver(1)|lung(11)|ovary(1)|skin(1)|urinary_tract(1) 21 UCEC - Uterine corpus endometrioid carcinoma (5;0.0241) AGCTGGGGAAGAGATAGGTGA 0.562000 5 227 0 0 0.021553 0 0 PLEKHA8P1 51054 broad.mit.edu 37 12 45567619 45567619 + RNA SNP G G A TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr12:45567619G>A ENST00000256692.5 - 0 1066 NR_037144.1 p.S177L(1) breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(10)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 26 AGAGCAACTTGAGTCTGATCC 0.388000 7 182 0 0 0.047766 0 0 C5 727 broad.mit.edu 37 9 123716141 123716141 + Missense_Mutation SNP C C T TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr9:123716141C>T ENST00000223642.1 - 40 4797 c.4768G>A c.(4768-4770)Gct>Act p.A1590T NM_001735.2 NP_001726.2 P01031 CO5_HUMAN complement component 5 1590 NTR. activation of MAPK activity|chemotaxis|complement activation, alternative pathway|complement activation, classical pathway|cytolysis|G-protein coupled receptor protein signaling pathway|inflammatory response|negative regulation of macrophage chemotaxis|positive regulation of chemokine secretion|positive regulation vascular endothelial growth factor production extracellular space|membrane attack complex chemokine activity|endopeptidase inhibitor activity p.A1590T(1) breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(14)|lung(5)|ovary(2)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 46 OV - Ovarian serous cystadenocarcinoma(323;4.98e-53)|GBM - Glioblastoma multiforme(294;0.0242) Eculizumab(DB01257) TCAGCAACAGCTTCCCCTGAG 0.383000 21 100 0 0 0.076483 0 0 GARS 2617 broad.mit.edu 37 7 30673444 30673444 + Missense_Mutation SNP G G C TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr7:30673444G>C ENST00000389266.3 + 17 2429 c.2188G>C c.(2188-2190)Gag>Cag p.E730Q NM_002047.2 NP_002038.2 P41250 SYG_HUMAN glycyl-tRNA synthetase 730 cell death|diadenosine tetraphosphate biosynthetic process|glycyl-tRNA aminoacylation cytosol|mitochondrial matrix|soluble fraction ATP binding|glycine-tRNA ligase activity|protein dimerization activity p.E730Q(1) breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|skin(3)|urinary_tract(1) 24 Glycine(DB00145) TGAAGGGCAAGAGACTGGTAA 0.428000 12 55 0 0 0.105934 0 0 ZNF354C 30832 broad.mit.edu 37 5 178506306 178506306 + Silent SNP G G C TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr5:178506306G>C ENST00000315475.6 + 5 1179 c.873G>C c.(871-873)ctG>ctC p.L291L NM_014594.1 NP_055409.1 Q86Y25 Z354C_HUMAN zinc finger protein 354C 291 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.L291L(1) endometrium(2)|kidney(1)|large_intestine(10)|lung(13)|ovary(1)|urinary_tract(3) 30 all_cancers(89;0.00065)|all_epithelial(37;0.000153)|Renal(175;0.000159)|Lung NSC(126;0.00175)|all_lung(126;0.00309) all_cancers(40;0.19)|all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) all cancers(165;0.247) TCAAACATCTGAGAGTGCATA 0.418000 62 97 0 0 0.139131 0 0 KBTBD6 89890 broad.mit.edu 37 13 41705450 41705450 + Nonsense_Mutation SNP G G A TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr13:41705450G>A ENST00000379485.1 - 1 1432 c.1198C>T c.(1198-1200)Cag>Tag p.Q400* KBTBD6_ENST00000499385.2_Nonsense_Mutation_p.Q334* NM_152903.4 NP_690867.3 Q86V97 KBTB6_HUMAN kelch repeat and BTB (POZ) domain containing 6 400 protein binding p.Q400*(1) NS(1)|breast(1)|endometrium(8)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|skin(4)|urinary_tract(4) 43 Lung NSC(96;4.52e-06)|Breast(139;0.00123)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114) all cancers(112;4.08e-09)|Epithelial(112;4.74e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000131)|GBM - Glioblastoma multiforme(144;0.000876)|BRCA - Breast invasive adenocarcinoma(63;0.0673) GTCCTGGGCTGAGCAGCTAGA 0.502000 34 156 0 0 0.069456 0 0 RBPJL 11317 broad.mit.edu 37 20 43943062 43943062 + Missense_Mutation SNP A A G TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr20:43943062A>G ENST00000343694.3 + 9 949 c.877A>G c.(877-879)Aaa>Gaa p.K293E RBPJL_ENST00000372741.3_Missense_Mutation_p.K293E|RBPJL_ENST00000464504.1_3'UTR|RBPJL_ENST00000372743.1_Missense_Mutation_p.K293E NM_001281448.1|NM_001281449.1|NM_014276.2 NP_001268377.1|NP_001268378.1|NP_055091.2 Q9UBG7 RBPJL_HUMAN recombination signal binding protein for immunoglobulin kappa J region-like 293 signal transduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity p.K293E(1) NS(1)|breast(2)|kidney(1)|large_intestine(5)|lung(3)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 Myeloproliferative disorder(115;0.0122) GATCATCCGTAAAGTAGCAAA 0.577000 4 163 0 0 0.009096 0 0 VASH1 22846 broad.mit.edu 37 14 77242312 77242312 + Missense_Mutation SNP G G A TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr14:77242312G>A ENST00000167106.4 + 5 1241 c.608G>A c.(607-609)cGc>cAc p.R203H RP11-488C13.6_ENST00000556368.1_RNA|VASH1_ENST00000556038.1_3'UTR NM_014909.4 NP_055724.1 Q7L8A9 VASH1_HUMAN vasohibin 1 203 cell cycle arrest|negative regulation of angiogenesis|negative regulation of blood vessel endothelial cell migration|negative regulation of endothelial cell proliferation endoplasmic reticulum|extracellular space p.R203>?(1)|p.R203H(1) breast(2)|endometrium(1)|large_intestine(1)|lung(1)|prostate(1)|stomach(1)|urinary_tract(3) 10 Kidney(204;0.164) BRCA - Breast invasive adenocarcinoma(234;0.0283) AACTACTTCCGCCACATCGTG 0.632000 3 7 0 0 0.115264 0 0 AKR1B15 441282 broad.mit.edu 37 7 134261766 134261766 + Missense_Mutation SNP A A G TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr7:134261766A>G ENST00000457545.2 + 10 1137 c.877A>G c.(877-879)Atg>Gtg p.M293V AKR1B15_ENST00000423958.1_Missense_Mutation_p.M265V NM_001080538.2 NP_001074007.2 C9JRZ8 AK1BF_HUMAN aldo-keto reductase family 1, member B15 293 oxidoreductase activity p.M311V(1)|p.M293V(1)|p.M265V(1) endometrium(1)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|urinary_tract(1) 18 CCCCAAGTCTATGACACCAGC 0.517000 5 120 0 0 0.021553 0 0 DAW1 164781 broad.mit.edu 37 2 228754637 228754637 + Missense_Mutation SNP C C T TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr2:228754637C>T ENST00000373666.2 + 3 815 c.179C>T c.(178-180)aCa>aTa p.T60I DAW1_ENST00000472604.1_3'UTR|DAW1_ENST00000309931.2_Missense_Mutation_p.T60I|DAW1_ENST00000545118.1_Missense_Mutation_p.T45I dynein assembly factor with WDR repeat domains 1 p.T60I(1) GCTTCACGAACAGAGCAAGTC 0.383000 14 56 0 0 0.105934 0 0 EID2 163126 broad.mit.edu 37 19 40030087 40030087 + Silent SNP C C T TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr19:40030087C>T ENST00000390658.2 - 1 783 c.633G>A c.(631-633)acG>acA p.T211T NM_153232.3 NP_694964.3 Q8N6I1 EID2_HUMAN EP300 interacting inhibitor of differentiation 2 211 cell differentiation|muscle organ development|negative regulation of transcription, DNA-dependent|negative regulation of transforming growth factor beta receptor signaling pathway|regulation of cell proliferation|SMAD protein complex assembly|transcription, DNA-dependent|transforming growth factor beta receptor complex assembly nucleus SMAD binding p.T211T(1) large_intestine(2)|lung(1)|urinary_tract(1) 4 all_cancers(60;4.04e-06)|all_lung(34;1.77e-07)|Lung NSC(34;2.09e-07)|all_epithelial(25;1.13e-05)|Ovarian(47;0.159) Epithelial(26;3.2e-25)|all cancers(26;8.83e-23)|LUSC - Lung squamous cell carcinoma(53;0.00281) TCAGAGCTATCGTAAAGGTTA 0.448000 6 230 0 0 0.021553 0 0 C19orf47 126526 broad.mit.edu 37 19 40842021 40842021 + Missense_Mutation SNP C C G TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr19:40842021C>G ENST00000582783.1 - 4 341 c.329G>C c.(328-330)cGt>cCt p.R110P C19orf47_ENST00000392035.2_Missense_Mutation_p.R43P NM_001256440.1 NP_001243369.1 Q8N9M1 CS047_HUMAN chromosome 19 open reading frame 47 110 p.R43P(1)|p.R110P(1) endometrium(5)|kidney(2)|lung(7)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1) 20 Lung(22;0.000636) ACCCACCTGACGGTGCACCAC 0.587000 3 89 0 0 0.115264 0 0 CLN8 2055 broad.mit.edu 37 8 1728460 1728460 + Silent SNP G G A TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr8:1728460G>A ENST00000331222.4 + 3 835 c.588G>A c.(586-588)ctG>ctA p.L196L CLN8_ENST00000523237.1_3'UTR NM_018941.3 NP_061764.2 Q9UBY8 CLN8_HUMAN ceroid-lipofuscinosis, neuronal 8 (epilepsy, progressive with mental retardation) 196 TLC. cell death|ceramide biosynthetic process|cholesterol metabolic process|lipid transport|negative regulation of proteolysis|phospholipid metabolic process endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|integral to membrane p.L196L(2) central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 24 Ovarian(12;0.0563)|Colorectal(14;0.0815)|Hepatocellular(245;0.0831) BRCA - Breast invasive adenocarcinoma(11;7.67e-05)|READ - Rectum adenocarcinoma(644;0.0913) ACCAGTGGCTGATGATTCACA 0.517000 19 54 0 0 0.043863 0 0 TMEM54 113452 broad.mit.edu 37 1 33363895 33363895 + Silent SNP C C G TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr1:33363895C>G ENST00000373463.3 - 2 161 c.42G>C c.(40-42)cgG>cgC p.R14R TMEM54_ENST00000329151.5_Silent_p.R14R|TMEM54_ENST00000475208.1_5'UTR NM_033504.2 NP_277039.1 Q969K7 TMM54_HUMAN transmembrane protein 54 14 integral to membrane p.R14R(1) endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|urinary_tract(1) 6 Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186) TCAGCACCTTCCGGAAGTCGC 0.632000 7 45 0 0 0.029380 0 0 AFF1 4299 broad.mit.edu 37 4 88012958 88012958 + Missense_Mutation SNP T T A TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr4:88012958T>A ENST00000307808.6 + 6 1604 c.1184T>A c.(1183-1185)gTc>gAc p.V395D AFF1_ENST00000544085.1_Missense_Mutation_p.V33D|AFF1_ENST00000395146.4_Missense_Mutation_p.V402D NM_005935.2 NP_005926.1 P51825 AFF1_HUMAN AF4/FMR2 family, member 1 395 nucleus sequence-specific DNA binding transcription factor activity p.V402D(1) breast(1)|large_intestine(2) 3 Acute lymphoblastic leukemia(40;0.0935)|all_hematologic(202;0.111)|Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;0.000233) TCTCAGCATGTCAGTTCTGTA 0.284000 6 9 0 0 0.021553 0 0 HSP90AB1 3326 broad.mit.edu 37 6 44216498 44216498 + Missense_Mutation SNP C C G TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr6:44216498C>G ENST00000371554.1 + 2 346 c.132C>G c.(130-132)atC>atG p.I44M HSP90AB1_ENST00000353801.3_Missense_Mutation_p.I44M|HSP90AB1_ENST00000371646.5_Missense_Mutation_p.I44M P08238 HS90B_HUMAN heat shock protein 90kDa alpha (cytosolic), class B member 1 44 axon guidance|negative regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of nitric oxide biosynthetic process|protein folding|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to unfolded protein cytosol|melanosome ATP binding|nitric-oxide synthase regulator activity|TPR domain binding|unfolded protein binding p.I44M(1) NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(12)|prostate(2)|skin(2)|urinary_tract(2) 33 all_cancers(18;1.7e-05)|all_lung(25;0.00747)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273) Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536) GGGAGTTGATCTCTAATGCTT 0.433000 12 363 0 0 0.105934 0 0 KAT6B 23522 broad.mit.edu 37 10 76781861 76781861 + Missense_Mutation SNP G G C TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr10:76781861G>C ENST00000287239.4 + 16 3733 c.3244G>C c.(3244-3246)Gaa>Caa p.E1082Q KAT6B_ENST00000490365.1_3'UTR|RP11-77G23.2_ENST00000413431.1_RNA|KAT6B_ENST00000372714.1_Missense_Mutation_p.E790Q|KAT6B_ENST00000372724.1_Missense_Mutation_p.E790Q|KAT6B_ENST00000372711.1_Missense_Mutation_p.E899Q|KAT6B_ENST00000372725.1_Missense_Mutation_p.E790Q NM_001256468.1|NM_012330.3 NP_001243397.1|NP_036462.2 Q8WYB5 MYST4_HUMAN K(lysine) acetyltransferase 6B 1082 Poly-Glu. histone H3 acetylation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent MOZ/MORF histone acetyltransferase complex|nucleosome DNA binding|histone acetyltransferase activity|transcription factor binding|zinc ion binding p.E1082Q(1) ggaggaggaagaagaggagga 0.522000 OREG0020273 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 3 67 0 0 0.115264 0 0 BRF1 2972 broad.mit.edu 37 14 105707692 105707692 + Missense_Mutation SNP C C T TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr14:105707692C>T ENST00000546474.1 - 6 15563 c.604G>A c.(604-606)Gag>Aag p.E202K BRF1_ENST00000379937.2_Missense_Mutation_p.E175K|BRF1_ENST00000440513.3_Missense_Mutation_p.E87K|BRF1_ENST00000327359.3_Missense_Mutation_p.E87K|BRF1_ENST00000379932.4_5'UTR|BRF1_ENST00000551787.1_5'UTR|BRF1_ENST00000446501.2_Intron|BRF1_ENST00000392557.4_5'UTR NM_001242787.1|NM_001519.3 NP_001229716.1|NP_001510.2 Q92994 TF3B_HUMAN BRF1, RNA polymerase III transcription initiation factor 90 kDa subunit 202 positive regulation of transcription, DNA-dependent|rRNA transcription|transcription initiation from RNA polymerase III promoter|tRNA transcription transcription factor TFIIIB complex translation initiation factor activity|zinc ion binding p.E202K(1)|p.E87K(1) NS(1)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|skin(2)|urinary_tract(2) 24 all_cancers(154;0.0231)|all_epithelial(191;0.0694)|Melanoma(154;0.155) OV - Ovarian serous cystadenocarcinoma(23;0.00753)|all cancers(16;0.00925)|Epithelial(46;0.0221) Epithelial(152;0.14) ATGGACACCTCGTGGTTCTTC 0.637000 16 41 0 0 0.146539 0 0 PAIP1 10605 broad.mit.edu 37 5 43547975 43547975 + Nonsense_Mutation SNP G G C TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr5:43547975G>C ENST00000306846.3 - 3 708 c.476C>G c.(475-477)tCa>tGa p.S159* PAIP1_ENST00000436644.2_Nonsense_Mutation_p.S80*|PAIP1_ENST00000338972.4_Nonsense_Mutation_p.S47*|PAIP1_ENST00000514514.1_Nonsense_Mutation_p.S80* NM_006451.4|NM_182789.3 NP_006442.2|NP_877590.1 Q9H074 PAIP1_HUMAN poly(A) binding protein interacting protein 1 159 MIF4G. mRNA stabilization|nuclear-transcribed mRNA poly(A) tail shortening|translational initiation cytosol protein binding|RNA binding|translation activator activity p.S159*(1) endometrium(2)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 24 Lung NSC(6;2.07e-05) AACATATTCTGATAGAGTAGG 0.368000 14 175 0 0 0.132662 0 0 SCYL3 57147 broad.mit.edu 37 1 169847899 169847899 + Missense_Mutation SNP T T A TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr1:169847899T>A ENST00000367771.6 - 3 441 c.227A>T c.(226-228)gAt>gTt p.D76V SCYL3_ENST00000470238.1_5'UTR|SCYL3_ENST00000367772.4_Missense_Mutation_p.D76V|SCYL3_ENST00000367770.1_Missense_Mutation_p.D76V NM_020423.6 NP_065156.5 Q8IZE3 PACE1_HUMAN SCY1-like 3 (S. cerevisiae) Protein kinase. cell migration Golgi apparatus|lamellipodium ATP binding|protein binding|protein kinase activity p.D76V(2) breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(5)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 27 all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181) ATGAATGCCATCCGCTTCCAC 0.443000 54 193 0 0 0.139131 0 0 MYO6 4646 broad.mit.edu 37 6 76623906 76623906 + Missense_Mutation SNP A A C TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr6:76623906A>C ENST00000369981.3 + 34 3848 c.3569A>C c.(3568-3570)aAa>aCa p.K1190T MYO6_ENST00000369975.1_Missense_Mutation_p.K1157T|MYO6_ENST00000369977.3_Missense_Mutation_p.K1189T|MYO6_ENST00000369985.4_Missense_Mutation_p.K1166T Q9UM54 MYO6_HUMAN myosin VI 1198 actin filament-based movement|DNA damage response, signal transduction by p53 class mediator|endocytosis|intracellular protein transport|positive regulation of transcription from RNA polymerase II promoter|regulation of secretion|sensory perception of sound|synaptic transmission cell cortex|clathrin coated vesicle membrane|coated pit|cytosol|DNA-directed RNA polymerase II, holoenzyme|filamentous actin|Golgi apparatus|nuclear membrane|perinuclear region of cytoplasm|ruffle membrane|unconventional myosin complex actin filament binding|ADP binding|ATP binding|calmodulin binding|minus-end directed microfilament motor activity|protein binding p.K1189T(1) breast(2)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(16)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 58 all_hematologic(105;0.189) BRCA - Breast invasive adenocarcinoma(397;0.223) CAGAGTAAGAAAAAAGGCTGG 0.532000 15 176 0 0 0.132662 0 0 CFHR3 10878 broad.mit.edu 37 1 196749062 196749062 + Missense_Mutation SNP C C T TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr1:196749062C>T ENST00000471440.2 + 3 463 c.389C>T c.(388-390)aCg>aTg p.T130M CFHR3_ENST00000367425.4_Missense_Mutation_p.T130M|CFHR3_ENST00000391985.3_Missense_Mutation_p.T130M complement factor H-related 3 p.T130M(1) breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|lung(6)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1) 18 GTTACATGTACGGAGAAAGGC 0.473000 4 74 0 0 0.009096 0 0 ALMS1 7840 broad.mit.edu 37 2 73677492 73677492 + Missense_Mutation SNP G G A TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr2:73677492G>A ENST00000264448.6 + 8 3946 c.3835G>A c.(3835-3837)Gct>Act p.A1279T ALMS1_ENST00000377715.1_Missense_Mutation_p.A1279T|ALMS1_ENST00000409009.1_Missense_Mutation_p.A1237T NM_015120.4 NP_055935 Q8TCU4 ALMS1_HUMAN Alstrom syndrome 1 1279 34 X 47 AA approximate tandem repeat. G2/M transition of mitotic cell cycle centrosome|cilium|cytosol|microtubule basal body|spindle pole p.A1279T(1) breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2) 147 TGGCACACCAGCTGTAACCTC 0.433000 4 141 0 0 0.014758 0 0 LDHAL6A 160287 broad.mit.edu 37 11 18487256 18487256 + Missense_Mutation SNP G G A TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr11:18487256G>A ENST00000280706.2 + 3 1114 c.317G>A c.(316-318)cGc>cAc p.R106H LDHAL6A_ENST00000396213.3_Missense_Mutation_p.R106H NM_144972.4 NP_659409.2 Q6ZMR3 LDH6A_HUMAN lactate dehydrogenase A-like 6A 106 glycolysis cytoplasm binding|L-lactate dehydrogenase activity p.R106H(1) large_intestine(3)|lung(9)|urinary_tract(1) 13 NADH(DB00157) GGAGAAACACGCCTTGATTTA 0.388000 10 124 0 0 0.058154 0 0 TBX3 6926 broad.mit.edu 37 12 115115443 115115443 + Missense_Mutation SNP C C G TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr12:115115443C>G ENST00000349155.2 - 4 1786 c.823G>C c.(823-825)Gac>Cac p.D275H TBX3_ENST00000257566.3_Missense_Mutation_p.D295H NM_005996.3 NP_005987.3 O15119 TBX3_HUMAN T-box 3 295 anterior/posterior axis specification, embryo|anti-apoptosis|cell aging|embryonic arm morphogenesis|embryonic digit morphogenesis|female genitalia development|follicle-stimulating hormone secretion|luteinizing hormone secretion|male genitalia development|mesoderm morphogenesis|negative regulation of myoblast differentiation|negative regulation of transcription, DNA-dependent|positive regulation of cell cycle|positive regulation of cell proliferation|regulation of transcription from RNA polymerase II promoter|skeletal system development nucleus sequence-specific DNA binding p.D295H(1) breast(5)|endometrium(1)|kidney(1)|large_intestine(6)|lung(21)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 47 Medulloblastoma(191;0.163)|all_neural(191;0.178) BRCA - Breast invasive adenocarcinoma(302;0.0574) GGGTTGTTGTCTATTTTTAAC 0.358000 16 125 0 0 0.038395 0 0 ALDH9A1 223 broad.mit.edu 37 1 165649774 165649774 + Missense_Mutation SNP G G A TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr1:165649774G>A ENST00000354775.4 - 5 1043 c.739C>T c.(739-741)Ccc>Tcc p.P247S ALDH9A1_ENST00000461664.1_5'UTR|ALDH9A1_ENST00000538148.1_Missense_Mutation_p.P153S NM_000696.3 NP_000687.3 P49189 AL9A1_HUMAN aldehyde dehydrogenase 9 family, member A1 223 carnitine biosynthetic process|cellular aldehyde metabolic process|hormone metabolic process|neurotransmitter biosynthetic process cytosol|plasma membrane 3-chloroallyl aldehyde dehydrogenase activity|4-trimethylammoniobutyraldehyde dehydrogenase activity|aldehyde dehydrogenase (NAD) activity|aminobutyraldehyde dehydrogenase activity p.P247S(1)|p.P223S(1) endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1)|skin(2)|urinary_tract(1) 21 all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155) NADH(DB00157) GCCACATCGGGATGCTGACAC 0.532000 39 186 0 0 0.086207 0 0 MRPL35 51318 broad.mit.edu 37 2 86437695 86437695 + Silent SNP C C T TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr2:86437695C>T ENST00000337109.4 + 4 505 c.471C>T c.(469-471)ctC>ctT p.L157L MRPL35_ENST00000409180.1_Silent_p.L157L|MRPL35_ENST00000254644.8_Silent_p.L157L|MRPL35_ENST00000605125.1_3'UTR NM_016622.3 NP_057706.2 Q9NZE8 RM35_HUMAN mitochondrial ribosomal protein L35 157 translation mitochondrial ribosome structural constituent of ribosome p.L157L(1) cervix(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(4)|skin(1)|stomach(1)|urinary_tract(2) 14 AGAGTAAACTCTTAGATAAAA 0.388000 10 104 0 0 0.058154 0 0 C8orf74 203076 broad.mit.edu 37 8 10555323 10555323 + Silent SNP G G A TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr8:10555323G>A ENST00000304519.5 + 3 485 c.456G>A c.(454-456)ccG>ccA p.P152P RP1L1_ENST00000329335.3_Intron NM_001040032.1 NP_001035121 Q6P047 CH074_HUMAN chromosome 8 open reading frame 74 152 p.P152P(1) central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|urinary_tract(1) 13 COAD - Colon adenocarcinoma(149;0.0811) ATCCCCTCCCGCTGGCCGAGG 0.652000 17 36 0 0 0.049695 0 0 TRPS1 7227 broad.mit.edu 37 8 116599614 116599614 + Missense_Mutation SNP G G C TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr8:116599614G>C ENST00000395715.3 - 5 2891 c.2314C>G c.(2314-2316)Cca>Gca p.P772A TRPS1_ENST00000519674.1_Missense_Mutation_p.P759A|TRPS1_ENST00000519076.1_Missense_Mutation_p.P513A|TRPS1_ENST00000520276.1_Missense_Mutation_p.P763A|TRPS1_ENST00000220888.5_Missense_Mutation_p.P759A NM_001282902.1|NM_001282903.1|NM_014112.2 NP_001269831.1|NP_001269832.1|NP_054831.2 Q9UHF7 TRPS1_HUMAN trichorhinophalangeal syndrome I 759 Mediates interaction with GLI3. negative regulation of transcription from RNA polymerase II promoter|NLS-bearing substrate import into nucleus|regulation of chondrocyte differentiation|skeletal system development|transcription from RNA polymerase II promoter nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.P772A(1)|p.P759A(1) autonomic_ganglia(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(58)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2) 111 all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219) Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12) TCAGAAACTGGCTCTCCCATT 0.493000 Langer-Giedion syndrome 35 439 0 0 0.074837 0 0 TAP2 6891 broad.mit.edu 37 6 32800587 32800587 + Missense_Mutation SNP C C A TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr6:32800587C>A ENST00000374897.2 - 6 1091 c.960G>T c.(958-960)gaG>gaT p.E320D TAP2_ENST00000452392.2_Missense_Mutation_p.E320D|TAP2_ENST00000374899.4_Missense_Mutation_p.E320D NM_000544.3 NP_000535.3 Q03519 TAP2_HUMAN transporter 2, ATP-binding cassette, sub-family B (MDR/TAP) 320 ABC transmembrane type-1.|Involved in peptide-binding site. antigen processing and presentation of endogenous peptide antigen via MHC class I via ER pathway, TAP-dependent|antigen processing and presentation of endogenous peptide antigen via MHC class Ib via ER pathway, TAP-dependent|antigen processing and presentation of exogenous protein antigen via MHC class Ib, TAP-dependent|cytosol to ER transport|intracellular transport of viral proteins in host cell|peptide antigen transport|positive regulation of antigen processing and presentation of peptide antigen via MHC class I|positive regulation of T cell mediated cytotoxicity nucleus|plasma membrane|TAP complex ATP binding|MHC class I protein binding|oligopeptide-transporting ATPase activity|peptide antigen binding|peptide antigen-transporting ATPase activity|TAP1 binding|TAP2 binding|tapasin binding p.E320D(2) CATCCTGGATCTCCCGAAGCA 0.612000 7 33 0.00448238 0.00456858 0.047766 1 0 ZC3H7A 29066 broad.mit.edu 37 16 11855265 11855265 + Silent SNP A A G TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr16:11855265A>G ENST00000396516.2 - 18 2513 c.2316T>C c.(2314-2316)ttT>ttC p.F772F ZC3H7A_ENST00000355758.4_Silent_p.F772F Q8IWR0 Z3H7A_HUMAN zinc finger CCCH-type containing 7A 772 nucleus nucleic acid binding|zinc ion binding p.F772F(1) breast(2)|endometrium(3)|kidney(5)|large_intestine(2)|liver(1)|lung(3)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(2) 25 TATGTACATCAAACTGTAAAG 0.363000 22 197 0 0 0.083992 0 0 FOXP2 93986 broad.mit.edu 37 7 114299626 114299626 + Splice_Site SNP G G C TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr7:114299626G>C ENST00000393500.3 + 20 2295 c.e20-1 FOXP2_ENST00000393491.3_Splice_Site|FOXP2_ENST00000350908.4_Splice_Site|FOXP2_ENST00000408937.3_Splice_Site|FOXP2_ENST00000393489.3_Splice_Site|FOXP2_ENST00000393498.2_Splice_Site|FOXP2_ENST00000393494.2_Splice_Site|FOXP2_ENST00000403559.4_Splice_Site O15409 FOXP2_HUMAN forkhead box P2 camera-type eye development|caudate nucleus development|cerebellum development|cerebral cortex development|embryo development|growth|lung alveolus development|negative regulation of transcription, DNA-dependent|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of mesenchymal cell proliferation|post-embryonic development|putamen development|regulation of sequence-specific DNA binding transcription factor activity|righting reflex|skeletal muscle tissue development|smooth muscle tissue development|vocal learning cytoplasm|transcription factor complex chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding p.?(1) breast(3)|endometrium(7)|kidney(4)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 52 TCTCATTTCAGGCTATCATGG 0.363000 14 130 0 0 0.132662 0 0 ZNF816 125893 broad.mit.edu 37 19 53454831 53454831 + Missense_Mutation SNP G G C TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr19:53454831G>C ENST00000357666.4 - 5 497 c.197C>G c.(196-198)tCt>tGt p.S66C ZNF321P_ENST00000391777.3_Intron|ZNF816_ENST00000444460.2_Missense_Mutation_p.S66C|ZNF816_ENST00000434371.2_Intron|ZNF816_ENST00000391786.2_3'UTR NM_001031665.2 NP_001026835.1 Q0VGE8 ZN816_HUMAN zinc finger protein 816 66 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.S66C(1) central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(10)|lung(9)|stomach(1)|urinary_tract(2) 27 GGATTTTAAAGAGCTATCTAA 0.333000 41 86 0 0 0.092188 0 0 OR5AK2 390181 broad.mit.edu 37 11 56756546 56756546 + Missense_Mutation SNP C C G TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr11:56756546C>G ENST00000326855.2 + 1 200 c.158C>G c.(157-159)tCc>tGc p.S53C NM_001005323.1 NP_001005323.1 Q8NH90 O5AK2_HUMAN olfactory receptor, family 5, subfamily AK, member 2 53 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.S53C(1) breast(3)|endometrium(1)|large_intestine(4)|lung(3)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 21 AACACAGATTCCAGATTTCAA 0.378000 79 57 0 0 0.139131 0 0 LILRA5 353514 broad.mit.edu 37 19 54823808 54823808 + Splice_Site SNP G G A TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr19:54823808G>A ENST00000301219.3 - 2 206 c.87C>T c.(85-87)ctC>ctT p.L29L AC008984.2_ENST00000507363.1_RNA|LILRA5_ENST00000446712.3_Splice_Site_p.L29L|LILRA5_ENST00000432233.3_Splice_Site_p.L29L|LILRA5_ENST00000346508.3_Splice_Site_p.L29L NM_021250.2 NP_067073.1 A6NI73 LIRA5_HUMAN leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 5 29 innate immune response extracellular region|integral to membrane receptor activity p.L29L(1) breast(1)|endometrium(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 20 Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.105) CAATCTCACCGAGGCAGAGCA 0.602000 24 19 0 0 0.083992 0 0 NLRP7 199713 broad.mit.edu 37 19 55451137 55451137 + Missense_Mutation SNP C C T TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr19:55451137C>T ENST00000588756.1 - 6 1536 c.1050G>A c.(1048-1050)atG>atA p.M350I NLRP7_ENST00000328092.5_Missense_Mutation_p.M350I|NLRP7_ENST00000340844.2_Missense_Mutation_p.M350I|NLRP7_ENST00000448121.2_Missense_Mutation_p.M350I|NLRP7_ENST00000590030.1_Missense_Mutation_p.M350I|NLRP7_ENST00000446217.1_Missense_Mutation_p.M378I|NLRP7_ENST00000592784.1_Missense_Mutation_p.M350I Q8WX94 NALP7_HUMAN NLR family, pyrin domain containing 7 350 NACHT. ATP binding p.M350I(2) autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3) 73 GBM - Glioblastoma multiforme(193;0.0325) CGTTGCTCCTCATTAGCTCAA 0.612000 4 48 0 0 0.009096 0 0 ABCB4 5244 broad.mit.edu 37 7 87032471 87032471 + Missense_Mutation SNP G G C TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr7:87032471G>C ENST00000265723.4 - 27 3745 c.3634C>G c.(3634-3636)Ctg>Gtg p.L1212V ABCB4_ENST00000358400.3_Missense_Mutation_p.L1158V|ABCB4_ENST00000545634.1_Missense_Mutation_p.L1205V|ABCB4_ENST00000453593.1_Missense_Mutation_p.L1158V|ABCB4_ENST00000359206.3_Missense_Mutation_p.L1205V NM_000443.3|NM_018849.2 NP_000434.1|NP_061337.1 P21439 MDR3_HUMAN ATP-binding cassette, sub-family B (MDR/TAP), member 4 1212 ABC transporter 2. cellular lipid metabolic process apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction ATP binding|xenobiotic-transporting ATPase activity p.L1205V(1) breast(5)|endometrium(7)|kidney(2)|large_intestine(15)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 77 Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203) TCAGTATCCAGAGCTGATGTA 0.433000 39 233 0 0 0.080422 0 0 GSG1 83445 broad.mit.edu 37 12 13256440 13256440 + Missense_Mutation SNP C C G TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr12:13256440C>G ENST00000324458.8 - 1 179 c.7G>C c.(7-9)Gat>Cat p.D3H GSG1_ENST00000432710.2_Missense_Mutation_p.D3H|GSG1_ENST00000351606.6_Missense_Mutation_p.D3H NM_001080555.2 NP_001074024.1 Q2KHT4 GSG1_HUMAN germ cell associated 1 0 endoplasmic reticulum membrane|integral to membrane p.D3H(2) endometrium(1)|large_intestine(3)|lung(4)|skin(1)|urinary_tract(1) 10 Prostate(47;0.183) BRCA - Breast invasive adenocarcinoma(232;0.15) TGAGAGGGATCGCTCATTCAC 0.428000 26 232 0 0 0.108266 0 0 BCL9L 283149 broad.mit.edu 37 11 118771774 118771774 + Missense_Mutation SNP G G A TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr11:118771774G>A ENST00000334801.3 - 6 3642 c.2678C>T c.(2677-2679)cCc>cTc p.P893L BCL9L_ENST00000526143.1_5'UTR NM_182557.2 NP_872363.1 Q86UU0 BCL9L_HUMAN B-cell CLL/lymphoma 9-like 893 Pro-rich. negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent transcription coactivator activity p.P893L(2) NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2) 56 all_hematologic(175;0.0839) Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;7.66e-05) GGACGCAGGGGGCAGAGGCAT 0.602000 19 16 0 0 0.076483 0 0 TMEM200A 114801 broad.mit.edu 37 6 130762701 130762701 + Silent SNP C C G TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr6:130762701C>G ENST00000392429.1 + 2 3512 c.1134C>G c.(1132-1134)gcC>gcG p.A378A TMEM200A_ENST00000545622.1_Silent_p.A378A|TMEM200A_ENST00000296978.3_Silent_p.A378A NM_052913.2 NP_443145.1 Q86VY9 T200A_HUMAN transmembrane protein 200A 378 integral to membrane p.A378A(2) NS(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(30)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 52 GBM - Glioblastoma multiforme(226;0.0139)|OV - Ovarian serous cystadenocarcinoma(155;0.12) CTGGGGCTGCCAGAAGACAGT 0.522000 13 74 0 0 0.105934 0 0 HCRTR2 3062 broad.mit.edu 37 6 55120033 55120033 + Missense_Mutation SNP C C T rs141639071 by1000genomes TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr6:55120033C>T ENST00000370862.3 + 3 838 c.502C>T c.(502-504)Cgg>Tgg p.R168W NM_001526.3 NP_001517.2 O43614 OX2R_HUMAN hypocretin (orexin) receptor 2 168 feeding behavior integral to plasma membrane neuropeptide receptor activity p.R168W(2) breast(3)|endometrium(2)|kidney(1)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 46 Lung NSC(77;0.107)|Renal(3;0.122) LUSC - Lung squamous cell carcinoma(124;0.23) CACAGCAAAGCGGGCCCGTAA 0.517000 5 72 0 0 0.021553 0 0 SH3PXD2A 9644 broad.mit.edu 37 10 105495508 105495508 + Silent SNP G G T TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr10:105495508G>T ENST00000369774.4 - 4 564 c.288C>A c.(286-288)ccC>ccA p.P96P SH3PXD2A_ENST00000355946.2_Silent_p.P96P Q5TCZ1 SPD2A_HUMAN SH3 and PX domains 2A 96 PX. cell communication|superoxide metabolic process cell junction|cell projection|cytoplasm|podosome phosphatidylinositol binding|protein binding p.P96P(1) breast(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(18)|ovary(1)|skin(1)|urinary_tract(1) 38 Colorectal(252;0.0815)|Breast(234;0.131) Epithelial(162;4.09e-10)|all cancers(201;2.73e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0119) ATTCATCGATGGGCTTCAGTC 0.582000 25 112 4.67007e-22 5.23838e-22 0.104719 1 0 INTS3 65123 broad.mit.edu 37 1 153724860 153724860 + Nonsense_Mutation SNP C C T TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr1:153724860C>T ENST00000456435.1 + 8 1403 c.217C>T c.(217-219)Cag>Tag p.Q73* INTS3_ENST00000476843.1_3'UTR|INTS3_ENST00000318967.2_Nonsense_Mutation_p.Q279*|INTS3_ENST00000435409.2_Nonsense_Mutation_p.Q279*|INTS3_ENST00000512605.1_Nonsense_Mutation_p.Q73* Q68E01 INT3_HUMAN integrator complex subunit 3 280 DNA repair|G2/M transition checkpoint|response to ionizing radiation|snRNA processing integrator complex|SOSS complex protein binding p.Q279*(1) breast(1)|cervix(4)|endometrium(10)|kidney(1)|large_intestine(6)|lung(9)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 38 all_lung(78;3.75e-32)|Lung NSC(65;1.37e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199) LUSC - Lung squamous cell carcinoma(543;0.151) CCATAATCCTCAGGCCTTGAG 0.433000 17 470 0 0 0.038395 0 0 SV2A 9900 broad.mit.edu 37 1 149879685 149879685 + Missense_Mutation SNP T T C TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr1:149879685T>C ENST00000369146.3 - 9 1943 c.1453A>G c.(1453-1455)Aaa>Gaa p.K485E SV2A_ENST00000369145.1_Missense_Mutation_p.K485E NM_001278719.1|NM_014849.3 NP_001265648.1|NP_055664.3 Q7L0J3 SV2A_HUMAN synaptic vesicle glycoprotein 2A 485 neurotransmitter transport cell junction|endoplasmic reticulum|integral to membrane|synaptic vesicle membrane transmembrane transporter activity p.K485E(1) breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|lung(16)|ovary(6)|pancreas(1)|prostate(8)|skin(2)|urinary_tract(2) 55 Breast(34;0.00769)|all_hematologic(923;0.127)|Colorectal(459;0.171) LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247) Levetiracetam(DB01202) GGGAACACTTTGGTGCGGGAT 0.527000 50 168 0 0 0.139131 0 0 KLF5 688 broad.mit.edu 37 13 73636553 73636553 + Silent SNP G G A TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr13:73636553G>A ENST00000377687.4 + 2 1352 c.816G>A c.(814-816)caG>caA p.Q272Q KLF5_ENST00000539231.1_Silent_p.Q181Q|KLF5_ENST00000477333.1_3'UTR NM_001730.3 NP_001721.2 Q13887 KLF5_HUMAN Kruppel-like factor 5 (intestinal) 272 transcription from RNA polymerase II promoter nucleus DNA binding|zinc ion binding p.Q272Q(1) breast(1)|endometrium(2)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 17 Prostate(6;0.00187)|Breast(118;0.0735) GBM - Glioblastoma multiforme(99;0.0011) CTGTTCCGCAGACTGCAGTGA 0.502000 21 93 0 0 0.049695 0 0 FAM65A 79567 broad.mit.edu 37 16 67578917 67578917 + Missense_Mutation SNP G G T TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr16:67578917G>T ENST00000540839.3 + 18 3205 c.2985G>T c.(2983-2985)gaG>gaT p.E995D FAM65A_ENST00000422602.2_Missense_Mutation_p.E996D|FAM65A_ENST00000042381.4_Missense_Mutation_p.E976D|FAM65A_ENST00000428437.2_Missense_Mutation_p.E990D|FAM65A_ENST00000379312.3_Missense_Mutation_p.E980D Q6ZS17 FA65A_HUMAN family with sequence similarity 65, member A 980 cytoplasm binding p.E976D(1) central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(12)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 39 Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0474)|Epithelial(162;0.117) AGTGCACAGAGAGACTCAGCT 0.642000 10 272 2.27111e-07 2.43169e-07 0.093190 1 0 NRXN2 9379 broad.mit.edu 37 11 64427940 64427940 + Silent SNP C C T TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr11:64427940C>T ENST00000265459.6 - 11 2714 c.2253G>A c.(2251-2253)acG>acA p.T751T NRXN2_ENST00000409571.1_Silent_p.T744T|NRXN2_ENST00000377559.3_Silent_p.T720T|NRXN2_ENST00000377551.1_Silent_p.T751T NM_015080.3 NP_055895.1 Q9P2S2 NRX2A_HUMAN neurexin 2 751 Laminin G-like 4. cell adhesion integral to membrane metal ion binding p.T751T(1) breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1) 71 CCTCTGCCTCCGTGTGCATGG 0.602000 5 35 0 0 0.014758 0 0 GPR101 83550 broad.mit.edu 37 X 136112838 136112838 + Missense_Mutation SNP C C A TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chrX:136112838C>A ENST00000298110.1 - 1 995 c.996G>T c.(994-996)atG>atT p.M332I NM_054021.1 NP_473362.1 Q96P66 GP101_HUMAN G protein-coupled receptor 101 332 integral to membrane|plasma membrane G-protein coupled receptor activity p.M332I(1) autonomic_ganglia(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(18)|ovary(3)|skin(1)|urinary_tract(1) 42 Acute lymphoblastic leukemia(192;0.000127) TGTCTGCCTTCATGCTGTTCT 0.557000 46 304 4.44401e-20 4.97167e-20 0.117977 1 0 OR6S1 341799 broad.mit.edu 37 14 21108987 21108987 + Missense_Mutation SNP C C G TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr14:21108987C>G ENST00000320704.3 - 1 863 c.864G>C c.(862-864)ttG>ttC p.L288F NM_001001968.1 NP_001001968.1 Q8NH40 OR6S1_HUMAN olfactory receptor, family 6, subfamily S, member 1 288 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.L288F(1) kidney(1)|large_intestine(3)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 23 all_cancers(95;0.00304) Epithelial(56;1.23e-06)|all cancers(55;1.01e-05) GBM - Glioblastoma multiforme(265;0.0135) TGAATGGATTCAACAGTGGTG 0.443000 6 238 0 0 0.021553 0 0 MAGEA6 4105 broad.mit.edu 37 X 151870004 151870004 + Missense_Mutation SNP G G C TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chrX:151870004G>C ENST00000329342.5 + 3 919 c.694G>C c.(694-696)Gag>Cag p.E232Q NM_005363.2 NP_005354.1 P43360 MAGA6_HUMAN melanoma antigen family A, 6 232 MAGE. protein binding p.E232Q(1) breast(1)|endometrium(3)|large_intestine(3)|lung(16)|prostate(3)|skin(1)|urinary_tract(1) 28 Acute lymphoblastic leukemia(192;6.56e-05) AGAGGTGTTTGAGGGGAGGGA 0.537000 76 203 0 0 0.139131 0 0 NEK5 341676 broad.mit.edu 37 13 52667254 52667254 + Missense_Mutation SNP G G C TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr13:52667254G>C ENST00000355568.4 - 13 1283 c.1144C>G c.(1144-1146)Caa>Gaa p.Q382E NM_199289.1 NP_954983.1 Q6P3R8 NEK5_HUMAN NIMA-related kinase 5 382 ATP binding|metal ion binding|protein serine/threonine kinase activity p.Q382*(1)|p.Q439*(1)|p.Q439E(1)|p.Q382E(1) breast(5)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(11)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 39 Breast(56;0.00173)|Lung NSC(96;0.0168)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236) GBM - Glioblastoma multiforme(99;3.7e-08) GTATTTTCTTGAGGAATAGGG 0.418000 44 126 0 0 0.111260 0 0 HDAC9 9734 broad.mit.edu 37 7 18975441 18975441 + Missense_Mutation SNP A A T TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr7:18975441A>T ENST00000406451.4 + 23 2954 c.2804A>T c.(2803-2805)cAt>cTt p.H935L HDAC9_ENST00000441542.2_Missense_Mutation_p.H938L|HDAC9_ENST00000432645.2_Missense_Mutation_p.H935L|HDAC9_ENST00000401921.1_Missense_Mutation_p.H894L NM_178423.1 NP_848510.1 Q9UKV0 HDAC9_HUMAN histone deacetylase 9 Histone deacetylase. B cell differentiation|cellular response to insulin stimulus|heart development|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|positive regulation of cell migration involved in sprouting angiogenesis|regulation of skeletal muscle fiber development|transcription, DNA-dependent cytoplasm|histone deacetylase complex|histone methyltransferase complex|transcription factor complex histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein binding|protein kinase C binding|repressing transcription factor binding|transcription corepressor activity p.H938L(2) breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|liver(2)|lung(37)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 82 all_lung(11;0.187) Valproic Acid(DB00313) GGTTTTGGTCATTTGACGAAG 0.393000 60 112 0 0 0.139131 0 0 LHFPL5 222662 broad.mit.edu 37 6 35773576 35773576 + Silent SNP C C G TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr6:35773576C>G ENST00000360215.1 + 1 506 c.129C>G c.(127-129)ctC>ctG p.L43L LHFPL5_ENST00000373853.1_Silent_p.L43L NM_182548.3 NP_872354.1 Q8TAF8 TMHS_HUMAN lipoma HMGIC fusion partner-like 5 43 integral to membrane p.L43L(1) endometrium(4)|large_intestine(4)|lung(7)|prostate(2)|skin(2)|urinary_tract(1) 20 TCATGGCCCTCTTCATCCAGC 0.592000 35 115 0 0 0.092188 0 0 NKTR 4820 broad.mit.edu 37 3 42679619 42679619 + Missense_Mutation SNP C C T TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr3:42679619C>T ENST00000232978.8 + 13 2611 c.2423C>T c.(2422-2424)tCt>tTt p.S808F RP4-613B23.1_ENST00000434363.1_RNA|RP4-613B23.1_ENST00000445452.1_RNA|RP4-613B23.1_ENST00000438017.1_RNA NM_005385.3 NP_005376.2 P30414 NKTR_HUMAN natural killer-tumor recognition sequence 808 Arg/Ser-rich. protein folding membrane cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity p.S808F(1) breast(3)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4) 41 KIRC - Kidney renal clear cell carcinoma(284;0.24) TTAGATTATTCTTCAGACAGT 0.408000 17 78 0 0 0.038395 0 0 ZNF827 152485 broad.mit.edu 37 4 146686170 146686170 + Missense_Mutation SNP T T G TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr4:146686170T>G ENST00000508784.1 - 13 3427 c.3200A>C c.(3199-3201)aAa>aCa p.K1067T ZNF827_ENST00000379448.4_Missense_Mutation_p.K1067T|ZNF827_ENST00000513320.1_Missense_Mutation_p.K717T Q17R98 ZN827_HUMAN zinc finger protein 827 1067 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.K1067T(2) NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 48 all_hematologic(180;0.151) AGTGTGGCATTTCTTATGCTC 0.498000 5 133 0 0 0.029380 0 0 A2M 2 broad.mit.edu 37 12 9268390 9268390 + Missense_Mutation SNP A A G TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr12:9268390A>G ENST00000318602.7 - 1 363 c.56T>C c.(55-57)cTg>cCg p.L19P NM_000014.4 NP_000005 P01023 A2MG_HUMAN alpha-2-macroglobulin 19 blood coagulation, intrinsic pathway|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|extracellular space|platelet alpha granule lumen enzyme binding|GTPase activator activity|interleukin-1 binding|interleukin-8 binding|serine-type endopeptidase inhibitor activity|tumor necrosis factor binding p.L19P(1) breast(1)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(17)|lung(30)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 77 Bacitracin(DB00626)|Becaplermin(DB00102) GTCTGTGGGCAGGAGGACCAA 0.468000 13 91 0 0 0.093190 0 0 CDKN1A 1026 broad.mit.edu 37 6 36652284 36652284 + Missense_Mutation SNP G G C TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr6:36652284G>C ENST00000405375.1 + 2 641 c.406G>C c.(406-408)Gac>Cac p.D136H CDKN1A_ENST00000373711.2_Missense_Mutation_p.D136H|CDKN1A_ENST00000448526.2_Missense_Mutation_p.D170H|CDKN1A_ENST00000244741.5_Missense_Mutation_p.D136H NM_001220778.1 NP_001207707.1 P38936 CDN1A_HUMAN cyclin-dependent kinase inhibitor 1A (p21, Cip1) 136 cell cycle arrest|cellular response to extracellular stimulus|cellular response to ionizing radiation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|induction of apoptosis by intracellular signals|negative regulation of cell growth|negative regulation of cell proliferation|positive regulation of fibroblast proliferation|positive regulation of reactive oxygen species metabolic process|Ras protein signal transduction|S phase of mitotic cell cycle|stress-induced premature senescence cyclin-dependent protein kinase holoenzyme complex|cytosol|nucleoplasm|PCNA-p21 complex cyclin-dependent protein kinase activating kinase activity|cyclin-dependent protein kinase inhibitor activity|metal ion binding p.D136H(1) breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|liver(1)|lung(3)|ovary(1)|urinary_tract(5) 15 TGGACCTGGAGACTCTCAGGG 0.587000 4 33 0 0 0.009096 0 0 SLC6A9 6536 broad.mit.edu 37 1 44474198 44474198 + Silent SNP C C T rs144161106 TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr1:44474198C>T ENST00000372310.3 - 5 582 c.417G>A c.(415-417)acG>acA p.T139T SLC6A9_ENST00000492434.2_5'UTR|SLC6A9_ENST00000372307.3_Silent_p.T74T|SLC6A9_ENST00000357730.2_Silent_p.T158T|SLC6A9_ENST00000475075.2_Silent_p.T28T|SLC6A9_ENST00000372306.3_Silent_p.T139T|SLC6A9_ENST00000537678.1_Silent_p.T74T|SLC6A9_ENST00000360584.2_Silent_p.T212T NM_001024845.2 NP_001020016.1 P48067 SC6A9_HUMAN solute carrier family 6 (neurotransmitter transporter, glycine), member 9 212 integral to plasma membrane|membrane fraction glycine:sodium symporter activity|neurotransmitter:sodium symporter activity p.T212T(1)|p.T139T(1) endometrium(3)|large_intestine(8)|lung(7)|ovary(1)|skin(1)|urinary_tract(2) 22 Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0511) Glycine(DB00145) GCAGCACGTGCGTCATGGACG 0.572000 4 114 0 0 0.009096 0 0 LPIN1 23175 broad.mit.edu 37 2 11944642 11944642 + Missense_Mutation SNP C C G TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr2:11944642C>G ENST00000256720.2 + 15 2092 c.1999C>G c.(1999-2001)Ctg>Gtg p.L667V LPIN1_ENST00000396099.1_Missense_Mutation_p.L709V|LPIN1_ENST00000449576.2_Missense_Mutation_p.L752V|LPIN1_ENST00000404113.2_Missense_Mutation_p.L168V|LPIN1_ENST00000396097.1_Missense_Mutation_p.L397V|LPIN1_ENST00000425416.2_Missense_Mutation_p.L673V NM_145693.2 NP_663731.1 Q14693 LPIN1_HUMAN lipin 1 667 C-LIP. fatty acid catabolic process|transcription, DNA-dependent|triglyceride biosynthetic process|triglyceride mobilization cytosol|endoplasmic reticulum membrane phosphatidate phosphatase activity p.L667V(1) autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(15)|liver(1)|lung(10)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 45 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) Epithelial(75;0.11)|OV - Ovarian serous cystadenocarcinoma(76;0.173) CACCATCTATCTGTGGAACTG 0.478000 11 103 0 0 0.080935 0 0 BRIP1 83990 broad.mit.edu 37 17 59853848 59853848 + Missense_Mutation SNP C C G TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr17:59853848C>G ENST00000259008.2 - 14 2278 c.2011G>C c.(2011-2013)Gag>Cag p.E671Q BRIP1_ENST00000583837.1_5'UTR|BRIP1_ENST00000577598.1_Missense_Mutation_p.E671Q NM_032043.2 NP_114432.2 Q9BX63 FANCJ_HUMAN BRCA1 interacting protein C-terminal helicase 1 671 DNA damage checkpoint|double-strand break repair|regulation of transcription from RNA polymerase II promoter cytoplasm|nucleus ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding p.E671Q(2) NS(1)|breast(3)|endometrium(9)|kidney(5)|large_intestine(9)|liver(2)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6) 55 TCTTGGAACTCAAATGTTTCA 0.418000 """F, N, Mis""" """AML, leukemia, breast""" Involved in tolerance or repair of DNA crosslinks 8 192 0 0 0.038147 0 0 OR11L1 391189 broad.mit.edu 37 1 248004359 248004359 + Silent SNP C C A TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr1:248004359C>A ENST00000355784.2 - 1 895 c.840G>T c.(838-840)gtG>gtT p.V280V NM_001001959.1 NP_001001959.1 Q8NGX0 O11L1_HUMAN olfactory receptor, family 11, subfamily L, member 1 280 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.V280V(1) NS(1)|endometrium(4)|kidney(5)|large_intestine(5)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 57 all_cancers(71;8.78e-05)|all_epithelial(71;9.15e-06)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858) OV - Ovarian serous cystadenocarcinoma(106;0.0319) GTGGTGTGACCACAGTGTAGA 0.443000 23 65 1.9806e-07 2.13141e-07 0.069288 1 0 XPC 7508 broad.mit.edu 37 3 14212042 14212042 + Missense_Mutation SNP G G T TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr3:14212042G>T ENST00000285021.7 - 3 522 c.308C>A c.(307-309)cCa>cAa p.P103Q XPC_ENST00000449060.2_Missense_Mutation_p.P103Q NM_001145769.1|NM_004628.4 NP_001139241.1|NP_004619.3 Q01831 XPC_HUMAN xeroderma pigmentosum, complementation group C 103 Glu-rich (acidic). nucleotide-excision repair, DNA damage recognition|nucleotide-excision repair, DNA damage removal cytoplasm|nucleoplasm|XPC complex bubble DNA binding|damaged DNA binding|loop DNA binding|protein binding|single-stranded DNA binding p.P103Q(1) NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 22 GAGGTCACTTGGAAAGTCCCT 0.423000 """Mis, N, F, S""" """skin basal cell, skin squamous cell, melanoma""" Nucleotide excision repair (NER) Xeroderma Pigmentosum 11 178 0.000151284 0.000157603 0.105934 1 0 NDC80 10403 broad.mit.edu 37 18 2599084 2599084 + Missense_Mutation SNP G G C TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr18:2599084G>C ENST00000261597.4 + 12 1470 c.1288G>C c.(1288-1290)Gag>Cag p.E430Q NM_006101.2 NP_006092.1 O14777 NDC80_HUMAN NDC80 kinetochore complex component 430 Interaction with NEK2 and ZWINT.|Interaction with PSMC2 and SMC1A.|Interaction with SMC1A.|Interaction with the N-terminus of CDCA1. attachment of spindle microtubules to kinetochore|cell division|establishment of mitotic spindle orientation|mitotic prometaphase|mitotic sister chromatid segregation|mitotic spindle organization|phosphatidylinositol-mediated signaling condensed nuclear chromosome outer kinetochore|cytosol|Ndc80 complex protein binding p.E430Q(1) NS(1)|biliary_tract(2)|breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(2)|urinary_tract(2) 22 TAAAGGTGCTGAGAATTCCAA 0.353000 12 78 0 0 0.080935 0 0 AK8 158067 broad.mit.edu 37 9 135702366 135702366 + Nonsense_Mutation SNP G G C TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr9:135702366G>C ENST00000298545.3 - 8 1153 c.632C>G c.(631-633)tCa>tGa p.S211* AK8_ENST00000477396.1_5'UTR NM_152572.2 NP_689785.1 Q96MA6 KAD8_HUMAN adenylate kinase 8 211 cytosol adenylate kinase activity|ATP binding|cytidylate kinase activity p.S211*(2) NS(1)|kidney(2)|large_intestine(4)|lung(11)|pancreas(2)|prostate(1)|urinary_tract(2) 23 CTCCAGCTCTGAGATGTCCTC 0.502000 5 287 0 0 0.021553 0 0 ATP6V1E1 529 broad.mit.edu 37 22 18075495 18075495 + Missense_Mutation SNP G G C TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr22:18075495G>C ENST00000253413.5 - 9 808 c.626C>G c.(625-627)cCa>cGa p.P209R ATP6V1E1_ENST00000399798.2_Missense_Mutation_p.P187R|ATP6V1E1_ENST00000399796.2_Missense_Mutation_p.P179R NM_001696.3 NP_001687.1 P36543 VATE1_HUMAN ATPase, H+ transporting, lysosomal 31kDa, V1 subunit E1 209 cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport apical plasma membrane|cytosol|endosome|proton-transporting two-sector ATPase complex, catalytic domain protein binding|proton-transporting ATPase activity, rotational mechanism p.P209R(1) breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(3)|urinary_tract(1) 10 all_epithelial(15;0.206) Lung(27;0.19) CCGGACTTCTGGCATCATCTG 0.453000 25 84 0 0 0.108266 0 0 SVEP1 79987 broad.mit.edu 37 9 113198707 113198707 + Missense_Mutation SNP A A T TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr9:113198707A>T ENST00000401783.2 - 28 5053 c.4717T>A c.(4717-4719)Tcc>Acc p.S1573T SVEP1_ENST00000374469.1_Missense_Mutation_p.S1550T NM_153366.3 NP_699197.3 Q4LDE5 SVEP1_HUMAN sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1 1573 Pentaxin. cell adhesion cytoplasm|extracellular region|membrane calcium ion binding p.S1576T(1) NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4) 147 TGGCTTATGGAGCCCACAAAA 0.473000 4 104 0 0 0.009096 0 0 CNTN1 1272 broad.mit.edu 37 12 41337797 41337797 + Splice_Site SNP A A G TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr12:41337797A>G ENST00000551295.2 + 14 1625 c.1508A>G c.(1507-1509)gAt>gGt p.D503G CNTN1_ENST00000348761.2_Splice_Site_p.D492G|CNTN1_ENST00000360099.3_Splice_Site_p.D503G|CNTN1_ENST00000547702.1_Splice_Site_p.D503G|CNTN1_ENST00000547849.1_Splice_Site_p.D503G|CNTN1_ENST00000347616.1_Splice_Site_p.D503G NM_001843.3 NP_001834.2 Q12860 CNTN1_HUMAN contactin 1 503 axon guidance|cell adhesion|Notch signaling pathway anchored to membrane|membrane fraction|plasma membrane p.D503G(1) central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(21)|lung(49)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2) 90 all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716) Lung NSC(34;0.0211)|all_lung(34;0.0294) AAATATATAGATCCTACGCGA 0.338000 11 60 0 0 0.105934 0 0 DFNB31 25861 broad.mit.edu 37 9 117240927 117240927 + Missense_Mutation SNP G G A rs141863996 TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr9:117240927G>A ENST00000362057.3 - 2 911 c.743C>T c.(742-744)tCg>tTg p.S248L DFNB31_ENST00000374057.3_Missense_Mutation_p.S248L|DFNB31_ENST00000265134.6_5'UTR NM_001173425.1|NM_015404.3 NP_001166896.1|NP_056219 Q9P202 WHRN_HUMAN deafness, autosomal recessive 31 248 inner ear receptor stereocilium organization|retina homeostasis|sensory perception of light stimulus|sensory perception of sound cytoplasm|growth cone|stereocilium p.S248L(1) central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(14)|ovary(5)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 38 GGGCAGGCCCGAGGGTGGGGA 0.662000 7 11 0 0 0.069234 0 0 TCTN3 26123 broad.mit.edu 37 10 97446269 97446269 + Missense_Mutation SNP C C G TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr10:97446269C>G ENST00000265993.9 - 7 1114 c.925G>C c.(925-927)Gat>Cat p.D309H TCTN3_ENST00000430368.2_Missense_Mutation_p.D212H|TCTN3_ENST00000371209.5_Missense_Mutation_p.D291H|TCTN3_ENST00000371217.5_Missense_Mutation_p.D291H NM_015631.5 NP_056446.4 Q6NUS6 TECT3_HUMAN tectonic family member 3 apoptosis integral to membrane p.D291H(2)|p.D140H(1) breast(3)|endometrium(1)|large_intestine(2)|lung(8)|urinary_tract(1) 15 Colorectal(252;0.0815) Epithelial(162;1.69e-07)|all cancers(201;5.63e-06) TTCTGTGGATCAGTCATGCTT 0.398000 14 155 0 0 0.119110 0 0 GUCY2C 2984 broad.mit.edu 37 12 14827597 14827597 + Missense_Mutation SNP G G T TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr12:14827597G>T ENST00000261170.3 - 8 1182 c.1046C>A c.(1045-1047)cCc>cAc p.P349H RP11-174G6.1_ENST00000501178.2_RNA NM_004963.3 NP_004954.2 P25092 GUC2C_HUMAN guanylate cyclase 2C (heat stable enterotoxin receptor) 349 intracellular signal transduction|receptor guanylyl cyclase signaling pathway integral to membrane ATP binding|GTP binding|guanylate cyclase activity|protein binding|protein kinase activity|receptor activity p.P349H(1) breast(3)|endometrium(7)|kidney(3)|large_intestine(9)|lung(17)|ovary(4)|skin(7)|urinary_tract(1) 51 AGCAAATTTGGGGGTGGTAAT 0.388000 10 189 9.70103e-10 1.06285e-09 0.069234 1 0 PKHD1L1 93035 broad.mit.edu 37 8 110412320 110412320 + Missense_Mutation SNP A A G TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr8:110412320A>G ENST00000378402.5 + 13 1132 c.1028A>G c.(1027-1029)aAg>aGg p.K343R NM_177531.4 NP_803875.2 Q86WI1 PKHL1_HUMAN polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 343 IPT/TIG 3. immune response cytosol|extracellular space|integral to membrane receptor activity p.K345R(1) NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4) 263 OV - Ovarian serous cystadenocarcinoma(57;9.88e-13) AGAGGCCTGAAGCTTGAGGTG 0.408000 HNSCC(38;0.096) 6 172 0 0 0.021553 0 0 ATP13A5 344905 broad.mit.edu 37 3 193029620 193029620 + Silent SNP G G A rs112958471 TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr3:193029620G>A ENST00000342358.4 - 20 2547 c.2430C>T c.(2428-2430)aaC>aaT p.N810N ATP13A5_ENST00000495496.1_5'UTR|ATP13A5-AS1_ENST00000414634.1_RNA NM_198505.2 NP_940907.2 Q4VNC0 AT135_HUMAN ATPase type 13A5 810 ATP biosynthetic process|cation transport integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding p.N810N(1) NS(1)|autonomic_ganglia(2)|breast(1)|endometrium(6)|kidney(4)|large_intestine(15)|liver(2)|lung(26)|ovary(5)|prostate(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 76 all_cancers(143;1.08e-08)|Ovarian(172;0.0386) OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06) GBM - Glioblastoma multiforme(46;0.000307) GAAGCAAGCTGTTGAAATGCT 0.423000 13 79 0 0 0.105934 0 0 UBR1 197131 broad.mit.edu 37 15 43339472 43339472 + Nonsense_Mutation SNP G G A TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr15:43339472G>A ENST00000290650.4 - 14 1633 c.1555C>T c.(1555-1557)Cga>Tga p.R519* UBR1_ENST00000382177.2_Nonsense_Mutation_p.R519* NM_174916.2 NP_777576.1 Q8IWV7 UBR1_HUMAN ubiquitin protein ligase E3 component n-recognin 1 519 cellular response to leucine|negative regulation of TOR signaling cascade cytosol leucine binding|zinc ion binding p.R519*(1) NS(2)|endometrium(2)|kidney(7)|large_intestine(12)|lung(25)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 58 all_cancers(109;4.32e-15)|all_epithelial(112;4.05e-13)|Lung NSC(122;1.75e-08)|all_lung(180;2e-07)|Melanoma(134;0.0179)|Colorectal(260;0.215) GBM - Glioblastoma multiforme(94;4.08e-07)|COAD - Colon adenocarcinoma(120;0.185)|Colorectal(105;0.214) ACCTGTCTTCGGATTTCTTCC 0.423000 9 234 0 0 0.058154 0 0 TAS2R60 338398 broad.mit.edu 37 7 143141091 143141091 + Silent SNP C C T TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr7:143141091C>T ENST00000332690.1 + 1 546 c.546C>T c.(544-546)ggC>ggT p.G182G EPHA1-AS1_ENST00000429289.1_RNA NM_177437.1 NP_803186.1 P59551 T2R60_HUMAN taste receptor, type 2, member 60 182 sensory perception of bitter taste integral to membrane G-protein coupled receptor activity p.G182G(1) breast(1)|kidney(1)|large_intestine(2)|lung(17)|prostate(1)|skin(7)|urinary_tract(2) 31 Melanoma(164;0.172) ATGTCACTGGCGATAGCATAC 0.408000 11 226 0 0 0.069234 0 0 PBXIP1 57326 broad.mit.edu 37 1 154924271 154924271 + Splice_Site SNP C C T TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr1:154924271C>T ENST00000368463.3 - 3 249 c.178G>A c.(178-180)Ggg>Agg p.G60R PBXIP1_ENST00000539880.1_Intron|PBXIP1_ENST00000542459.1_Intron|PBXIP1_ENST00000368460.3_Splice_Site_p.G60R|PBXIP1_ENST00000368465.1_Splice_Site_p.G31R|PBXIP1_ENST00000498553.1_Intron NM_020524.2 NP_065385.2 Q96AQ6 PBIP1_HUMAN pre-B-cell leukemia homeobox interacting protein 1 60 cell differentiation|multicellular organismal development|negative regulation of transcription, DNA-dependent cytosol|microtubule|nucleus protein binding|transcription corepressor activity p.G60R(1) breast(1)|kidney(2)|large_intestine(6)|lung(13)|prostate(1)|urinary_tract(1) 24 all_epithelial(22;4.9e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.245) BRCA - Breast invasive adenocarcinoma(34;0.00034) GGCCCAGTACCTTCTCCATCC 0.522000 12 457 0 0 0.080935 0 0 C17orf62 79415 broad.mit.edu 37 17 80403819 80403819 + Missense_Mutation SNP C C G TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr17:80403819C>G ENST00000437807.2 - 6 536 c.219G>C c.(217-219)aaG>aaC p.K73N C17orf62_ENST00000306645.5_Missense_Mutation_p.K73N|C17orf62_ENST00000585080.1_Missense_Mutation_p.K73N|C17orf62_ENST00000336995.7_5'UTR|C17orf62_ENST00000585064.1_Missense_Mutation_p.K73N|C17orf62_ENST00000342572.8_5'UTR|C17orf62_ENST00000578913.1_Missense_Mutation_p.K73N|C17orf62_ENST00000578919.1_Missense_Mutation_p.K73N|C17orf62_ENST00000577436.1_Missense_Mutation_p.K59N|C17orf62_ENST00000577732.1_Missense_Mutation_p.K73N|C17orf62_ENST00000434650.2_Missense_Mutation_p.K59N|C17orf62_ENST00000583359.1_5'UTR|C17orf62_ENST00000583617.1_Missense_Mutation_p.K73N NM_001193653.1|NM_001193657.1 NP_001180582.1|NP_001180586.1 Q9BQA9 CQ062_HUMAN chromosome 17 open reading frame 62 73 integral to membrane protein binding p.K73N(1) breast(2)|large_intestine(2)|skin(2)|urinary_tract(2) 8 Breast(20;0.00106)|all_neural(118;0.0804) OV - Ovarian serous cystadenocarcinoma(97;0.0143)|BRCA - Breast invasive adenocarcinoma(99;0.0369) TCCCTGTGCTCTTGTCGAAGA 0.607000 3 34 0 0 0.115264 0 0 DNAJC28 54943 broad.mit.edu 37 21 34860591 34860591 + Missense_Mutation SNP C C G TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr21:34860591C>G ENST00000314399.3 - 2 1548 c.1110G>C c.(1108-1110)aaG>aaC p.K370N DNAJC28_ENST00000402202.1_Missense_Mutation_p.K370N|DNAJC28_ENST00000381947.3_Missense_Mutation_p.K370N NM_017833.3 NP_060303.2 Q9NX36 DJC28_HUMAN DnaJ (Hsp40) homolog, subfamily C, member 28 370 LIVPILTRQKVHFDAQKEIVRAQKIYETLIKTKEVTDRNPN NLDQGEGEKTPEIKKGFLNWMNLWKFIKIRSF -> CSHPD QAKSPF (in Ref. 2; BAA91185). heat shock protein binding p.K370N(1) endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(5)|skin(1)|urinary_tract(1) 18 AAAAACCTTTCTTGATTTCAG 0.318000 20 94 0 0 0.055883 0 0 JAM2 58494 broad.mit.edu 37 21 27062211 27062211 + Missense_Mutation SNP C C A TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr21:27062211C>A ENST00000480456.1 + 3 717 c.167C>A c.(166-168)aCt>aAt p.T56N JAM2_ENST00000312957.5_Missense_Mutation_p.T56N|JAM2_ENST00000425221.2_Intron|JAM2_ENST00000400532.1_Missense_Mutation_p.T56N NM_001270407.1|NM_021219.3 NP_001257336.1|NP_067042.1 P57087 JAM2_HUMAN junctional adhesion molecule 2 56 Ig-like V-type. blood coagulation|cell-cell adhesion|leukocyte migration integral to plasma membrane|tight junction p.T56N(1) endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(12)|prostate(1)|stomach(1)|urinary_tract(1) 19 CCAAAGAAGACTGTTTCCTCC 0.393000 16 211 2.35188e-11 2.60365e-11 0.038395 1 0 PTPRG 5793 broad.mit.edu 37 3 62267314 62267314 + Missense_Mutation SNP G G A TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr3:62267314G>A ENST00000474889.1 + 27 4219 c.3842G>A c.(3841-3843)aGc>aAc p.S1281N PTPRG_ENST00000295874.10_Missense_Mutation_p.S1252N|PTPRG-AS1_ENST00000466893.1_RNA|PTPRG-AS1_ENST00000479018.1_RNA|PTPRG-AS1_ENST00000475371.1_RNA|PTPRG-AS1_ENST00000474795.1_RNA|PTPRG-AS1_ENST00000490916.1_RNA|PTPRG-AS1_ENST00000462497.1_RNA|PTPRG-AS1_ENST00000495542.1_RNA NM_002841.3 NP_002832.3 P23470 PTPRG_HUMAN protein tyrosine phosphatase, receptor type, G 1281 Tyrosine-protein phosphatase 2. transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane identical protein binding|transmembrane receptor protein tyrosine phosphatase activity p.S1281N(1) NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|liver(2)|lung(15)|ovary(7)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 62 BRCA - Breast invasive adenocarcinoma(55;0.000376)|KIRC - Kidney renal clear cell carcinoma(10;0.0499)|Kidney(10;0.065) ACCCTTATCAGCAAAGACAGA 0.403000 4 93 0 0 0.009096 0 0 LMAN1L 79748 broad.mit.edu 37 15 75116785 75116785 + Missense_Mutation SNP C C G TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr15:75116785C>G ENST00000309664.5 + 13 1556 c.1417C>G c.(1417-1419)Cag>Gag p.Q473E LMAN1L_ENST00000379709.3_Missense_Mutation_p.Q461E|RP11-414J4.2_ENST00000564823.1_RNA NM_021819.2 NP_068591.2 Q9HAT1 LMA1L_HUMAN lectin, mannose-binding, 1 like 473 ER-Golgi intermediate compartment membrane|integral to membrane sugar binding p.Q473E(1) NS(2)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 CCTCCTCATTCAGACTGTAGG 0.597000 7 122 0 0 0.038147 0 0 APOL1 8542 broad.mit.edu 37 22 36661303 36661303 + Silent SNP C C T TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr22:36661303C>T ENST00000319136.4 + 7 736 c.469C>T c.(469-471)Ctg>Ttg p.L157L APOL1_ENST00000440669.2_3'UTR|APOL1_ENST00000397278.3_Silent_p.L141L|APOL1_ENST00000397279.4_Silent_p.L141L|APOL1_ENST00000426053.1_Silent_p.L123L|APOL1_ENST00000347595.7_Silent_p.L20L|APOL1_ENST00000422706.1_Silent_p.L141L NM_145343.2 NP_663318.1 O14791 APOL1_HUMAN apolipoprotein L, 1 141 cholesterol metabolic process|cytolysis|innate immune response|killing of cells of other organism|lipid transport|lipoprotein metabolic process high-density lipoprotein particle|very-low-density lipoprotein particle chloride channel activity|lipid binding|protein binding p.L157L(1) breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(2)|urinary_tract(2) 14 AAACTGGTTTCTGAAAGAGTT 0.473000 16 82 0 0 0.146539 0 0 FAM166A 401565 broad.mit.edu 37 9 140139944 140139944 + Missense_Mutation SNP C C G TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr9:140139944C>G ENST00000344774.4 - 3 391 c.337G>C c.(337-339)Gag>Cag p.E113Q FAM166A_ENST00000388932.2_Missense_Mutation_p.E113Q NM_001001710.1 NP_001001710.1 Q6J272 F166A_HUMAN family with sequence similarity 166, member A 113 p.E113Q(1) kidney(3)|lung(7)|ovary(2)|prostate(1)|urinary_tract(2) 15 CCTGGCGGCTCCTGGGCGTCC 0.627000 14 91 0 0 0.146539 0 0 ATF7IP 55729 broad.mit.edu 37 12 14613579 14613579 + Missense_Mutation SNP G G T TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr12:14613579G>T ENST00000544627.1 + 9 2653 c.2333G>T c.(2332-2334)gGa>gTa p.G778V ATF7IP_ENST00000540793.1_Missense_Mutation_p.G770V|ATF7IP_ENST00000543189.1_Missense_Mutation_p.G769V|ATF7IP_ENST00000261168.4_Missense_Mutation_p.G770V|ATF7IP_ENST00000536444.1_Missense_Mutation_p.G769V|ATF7IP_ENST00000541654.1_3'UTR Q6VMQ6 MCAF1_HUMAN activating transcription factor 7 interacting protein 770 Interaction with SETDB1. DNA methylation|interspecies interaction between organisms|positive regulation of transcription, DNA-dependent|regulation of RNA polymerase II transcriptional preinitiation complex assembly|transcription, DNA-dependent protein binding p.G770V(1) cervix(1)|endometrium(7)|kidney(5)|large_intestine(10)|liver(2)|lung(22)|ovary(1)|prostate(4)|skin(1)|urinary_tract(1) 54 GTGCCTAGTGGAAATCCCCAG 0.502000 5 127 0.014758 0.0148632 0.014758 1 0 MIR422A 494334 broad.mit.edu 37 15 64163136 64163136 + RNA SNP G G A TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr15:64163136G>A ENST00000362286.1 - 0 82 NR_029944.1 ggcccagggaggacaaagctt 0.577000 18 53 0 0 0.043863 0 0 ZNF233 353355 broad.mit.edu 37 19 44778142 44778142 + Silent SNP G G A TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr19:44778142G>A ENST00000391958.2 + 5 1456 c.1329G>A c.(1327-1329)caG>caA p.Q443Q ZNF235_ENST00000589799.1_Intron|ZNF233_ENST00000592581.1_3'UTR|ZNF233_ENST00000334152.1_Silent_p.Q425Q NM_181756.2 NP_861421.2 A6NK53 ZN233_HUMAN zinc finger protein 233 443 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.Q443Q(1) breast(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(4)|skin(3)|urinary_tract(1) 20 Prostate(69;0.0435)|all_neural(266;0.226) GTCTTCACCAGAGAGTTCACA 0.428000 36 89 0 0 0.074837 0 0 CD163 9332 broad.mit.edu 37 12 7639982 7639982 + Missense_Mutation SNP C C T TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr12:7639982C>T ENST00000359156.4 - 8 2225 c.2023G>A c.(2023-2025)Gag>Aag p.E675K CD163_ENST00000541972.1_Missense_Mutation_p.E663K|CD163_ENST00000432237.2_Missense_Mutation_p.E675K|CD163_ENST00000396620.3_Missense_Mutation_p.E708K NM_004244.5 NP_004235.4 Q86VB7 C163A_HUMAN CD163 molecule 675 SRCR 6. acute-phase response extracellular region|integral to plasma membrane protein binding|scavenger receptor activity p.E675K(1) breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4) 76 GCCACTTGCTCTGAAGGACAT 0.468000 5 46 0 0 0.014758 0 0 SLC4A8 9498 broad.mit.edu 37 12 51845973 51845973 + Nonsense_Mutation SNP G G T TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr12:51845973G>T ENST00000453097.2 + 4 560 c.343G>T c.(343-345)Gag>Tag p.E115* SLC4A8_ENST00000394856.1_Nonsense_Mutation_p.E62*|SLC4A8_ENST00000535225.2_Nonsense_Mutation_p.E62*|SLC4A8_ENST00000514353.3_Nonsense_Mutation_p.E62*|SLC4A8_ENST00000358657.3_Nonsense_Mutation_p.E142* NM_001039960.2|NM_001258401.2 NP_001035049.1|NP_001245330.1 Q2Y0W8 S4A8_HUMAN solute carrier family 4, sodium bicarbonate cotransporter, member 8 115 bicarbonate transport|sodium ion transport integral to membrane|plasma membrane inorganic anion exchanger activity p.E115*(2)|p.E62*(1) NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(18)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(2)|urinary_tract(5) 55 BRCA - Breast invasive adenocarcinoma(357;0.15) TGTGCCTCATGAGCTGTTTAC 0.478000 6 222 3.59834e-05 3.75787e-05 0.021553 1 0 BACH1 571 broad.mit.edu 37 21 30701862 30701862 + Missense_Mutation SNP C C G TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr21:30701862C>G ENST00000399921.1 + 4 1867 c.1624C>G c.(1624-1626)Cag>Gag p.Q542E BACH1_ENST00000286800.3_Missense_Mutation_p.Q542E NM_206866.1 NP_996749.1 O14867 BACH1_HUMAN BTB and CNC homology 1, basic leucine zipper transcription factor 1 542 nucleus protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity p.Q542*(1)|p.Q542E(1) breast(1)|endometrium(5)|kidney(2)|large_intestine(8)|liver(1)|lung(7)|ovary(1)|urinary_tract(2) 27 AAATGATTTTCAGTCCTTGTT 0.343000 11 41 0 0 0.069234 0 0 SYNE1 23345 broad.mit.edu 37 6 152563519 152563519 + Missense_Mutation SNP C C G TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr6:152563519C>G ENST00000367255.5 - 107 20350 c.19749G>C c.(19747-19749)caG>caC p.Q6583H SYNE1_ENST00000341594.5_Missense_Mutation_p.Q6195H|SYNE1_ENST00000356820.4_Missense_Mutation_p.Q1107H|SYNE1_ENST00000265368.4_Missense_Mutation_p.Q6583H|SYNE1_ENST00000423061.1_Missense_Mutation_p.Q6512H|SYNE1_ENST00000448038.1_Missense_Mutation_p.Q6512H NM_182961.3 NP_892006.3 Q8NF91 SYNE1_HUMAN spectrin repeat containing, nuclear envelope 1 6583 cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex actin binding|lamin binding p.Q6583H(2)|p.Q6512H(1) NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19) 524 Ovarian(120;0.0955) BRCA - Breast invasive adenocarcinoma(37;0.243) OV - Ovarian serous cystadenocarcinoma(155;2.24e-10) GTGTAAGGTTCTGATTCAGAC 0.473000 HNSCC(10;0.0054) 29 120 0 0 0.108266 0 0 UNC13C 440279 broad.mit.edu 37 15 54435219 54435219 + Silent SNP C C T TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr15:54435219C>T ENST00000537900.1 + 2 2988 c.2988C>T c.(2986-2988)agC>agT p.S996S UNC13C_ENST00000260323.11_Silent_p.S996S|UNC13C_ENST00000545554.1_Intron Q8NB66 UN13C_HUMAN unc-13 homolog C (C. elegans) 996 exocytosis|intracellular signal transduction cell junction|cytoplasm|presynaptic membrane metal ion binding p.S996S(2) breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4) 121 GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124) TTTCAGATAGCAGTTCTGTGG 0.313000 10 83 0 0 0.093190 0 0 BMX 660 broad.mit.edu 37 X 15534291 15534291 + Missense_Mutation SNP G G T rs149800709 TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chrX:15534291G>T ENST00000357607.2 + 5 570 c.382G>T c.(382-384)Ggg>Tgg p.G128W BMX_ENST00000463891.1_3'UTR|BMX_ENST00000348343.6_Missense_Mutation_p.G128W|BMX_ENST00000342014.6_Missense_Mutation_p.G128W P51813 BMX_HUMAN BMX non-receptor tyrosine kinase 128 cellular component disassembly involved in apoptosis|intracellular signal transduction|mesoderm development cytosol ATP binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding|signal transducer activity p.G128W(1) breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(14)|ovary(2)|urinary_tract(3) 30 Hepatocellular(33;0.183) CTTCGTGGACGGGAAGTTCCT 0.517000 12 306 4.3838e-07 4.67018e-07 0.105934 1 0 SETX 23064 broad.mit.edu 37 9 135204838 135204838 + Missense_Mutation SNP T T C TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr9:135204838T>C ENST00000372169.2 - 10 2329 c.2147A>G c.(2146-2148)aAa>aGa p.K716R SETX_ENST00000224140.5_Missense_Mutation_p.K716R|SETX_ENST00000393220.1_Missense_Mutation_p.K716R Q7Z333 SETX_HUMAN senataxin 716 cell death|double-strand break repair|RNA processing cytoplasm|nucleolus|nucleoplasm ATP binding|DNA helicase activity p.K716R(1) breast(7)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(1)|lung(36)|ovary(2)|prostate(2)|skin(1)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(2) 97 Myeloproliferative disorder(178;0.204) OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171) AGAGATCTCTTTTACAGACTT 0.363000 66 173 0 0 0.139131 0 0 CLHC1 130162 broad.mit.edu 37 2 55407837 55407837 + Missense_Mutation SNP G G C TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr2:55407837G>C ENST00000401408.1 - 11 1538 c.1193C>G c.(1192-1194)tCt>tGt p.S398C CLHC1_ENST00000406437.2_5'UTR|CLHC1_ENST00000494539.1_Intron|CLHC1_ENST00000406076.1_Missense_Mutation_p.S276C|CLHC1_ENST00000407122.1_Missense_Mutation_p.S398C NM_152385.2 NP_689598.2 clathrin heavy chain linker domain containing 1 p.S398C(2) AGCCTCCTCAGAAAATGTCAG 0.418000 15 73 0 0 0.038395 0 0 TTN 7273 broad.mit.edu 37 2 179629030 179629030 + Splice_Site SNP C C G TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr2:179629030C>G ENST00000589042.1 - 43 10213 c.e43-1 TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000360870.5_Splice_Site|TTN_ENST00000359218.5_Splice_Site|TTN_ENST00000342992.6_Splice_Site|TTN_ENST00000342175.6_Splice_Site|TTN_ENST00000591111.1_Splice_Site|TTN_ENST00000460472.2_Splice_Site|TTN-AS1_ENST00000610005.1_RNA|TTN-AS1_ENST00000585451.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity p.?(6) NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) ACTTCTGGAACTAAAGAAAGA 0.458000 4 41 0 0 0.009096 0 0 ACSF3 197322 broad.mit.edu 37 16 89211739 89211739 + Missense_Mutation SNP C C G TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr16:89211739C>G ENST00000317447.4 + 9 1808 c.1431C>G c.(1429-1431)atC>atG p.I477M ACSF3_ENST00000378345.4_Missense_Mutation_p.I212M|ACSF3_ENST00000406948.3_Missense_Mutation_p.I477M|ACSF3_ENST00000537116.1_3'UTR NM_001127214.2|NM_001243279.1|NM_001284316.1|NM_174917.3 NP_001120686.1|NP_001230208.1|NP_001271245.1|NP_777577.2 Q4G176 ACSF3_HUMAN acyl-CoA synthetase family member 3 477 fatty acid metabolic process mitochondrion acid-thiol ligase activity|ATP binding p.I477M(1) central_nervous_system(1)|endometrium(1)|kidney(2)|lung(9)|prostate(1)|urinary_tract(1) 15 BRCA - Breast invasive adenocarcinoma(80;0.0281) TGGACATCATCAAGACTGGAG 0.622000 6 22 0 0 0.038147 0 0 HSF1 3297 broad.mit.edu 37 8 145535686 145535686 + Missense_Mutation SNP G G C TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr8:145535686G>C ENST00000528838.1 + 9 1058 c.898G>C c.(898-900)Gag>Cag p.E300Q HSF1_ENST00000400780.4_Missense_Mutation_p.E235Q NM_005526.2 NP_005517.1 Q00613 HSF1_HUMAN heat shock transcription factor 1 300 Regulatory domain. cytoplasm protein binding|sequence-specific DNA binding transcription factor activity p.E300Q(1) endometrium(1)|large_intestine(1)|lung(3)|prostate(3)|skin(1)|urinary_tract(2) 11 all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;3.94e-40)|Epithelial(56;1.12e-39)|all cancers(56;9.11e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0547)|Colorectal(110;0.055) TGTCAAGGAGGAGCCCCCCAG 0.701000 5 13 0 0 0.014758 0 0 RND1 27289 broad.mit.edu 37 12 49258602 49258602 + Missense_Mutation SNP C C T TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr12:49258602C>T ENST00000309739.5 - 2 302 c.172G>A c.(172-174)Gaa>Aaa p.E58K NM_014470.3 NP_055285.1 Q92730 RND1_HUMAN Rho family GTPase 1 58 actin filament organization|axon guidance|negative regulation of cell adhesion|neuron remodeling|small GTPase mediated signal transduction adherens junction|cytoskeleton|cytosol GTP binding|GTPase activity|receptor binding p.E58K(1) breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|ovary(2)|skin(1)|urinary_tract(1) 10 ACCCTCTGTTCCTCTGTCTCC 0.507000 25 176 0 0 0.116897 0 0 GNG2 54331 broad.mit.edu 37 14 52433361 52433361 + Missense_Mutation SNP G G C TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr14:52433361G>C ENST00000335281.4 + 3 578 c.172G>C c.(172-174)Gaa>Caa p.E58Q GNG2_ENST00000556766.1_Missense_Mutation_p.E58Q|GNG2_ENST00000557376.1_Missense_Mutation_p.E97Q|GNG2_ENST00000556752.1_Missense_Mutation_p.E58Q|GNG2_ENST00000553299.1_3'UTR|GNG2_ENST00000554736.1_Missense_Mutation_p.E58Q|GNG2_ENST00000553432.1_Missense_Mutation_p.E89Q|GNG2_ENST00000555472.1_Missense_Mutation_p.E58Q NM_001243774.1 NP_001230703.1 P59768 GBG2_HUMAN guanine nucleotide binding protein (G protein), gamma 2 58 cellular response to glucagon stimulus|energy reserve metabolic process|platelet activation|synaptic transmission heterotrimeric G-protein complex protein binding|signal transducer activity p.E58Q(1) lung(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 5 all_epithelial(31;0.0659)|Breast(41;0.0684) Halothane(DB01159) TCCGGCTTCAGAAAACCCGTT 0.522000 75 112 0 0 0.139131 0 0 NEIL3 55247 broad.mit.edu 37 4 178281777 178281777 + Silent SNP C C T TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr4:178281777C>T ENST00000264596.3 + 9 1699 c.1581C>T c.(1579-1581)ggC>ggT p.G527G NM_018248.2 NP_060718 Q8TAT5 NEIL3_HUMAN nei endonuclease VIII-like 3 (E. coli) 527 base-excision repair|nucleotide-excision repair nucleus bubble DNA binding|damaged DNA binding|DNA N-glycosylase activity|DNA-(apurinic or apyrimidinic site) lyase activity|double-stranded DNA binding|single-stranded DNA binding|zinc ion binding p.G527G(1) breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 29 Breast(14;6.27e-05)|Melanoma(52;0.00102)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.164) all cancers(43;1.96e-23)|Epithelial(43;2.52e-20)|OV - Ovarian serous cystadenocarcinoma(60;1.89e-11)|GBM - Glioblastoma multiforme(59;9.49e-05)|Colorectal(24;0.00013)|COAD - Colon adenocarcinoma(29;0.000696)|STAD - Stomach adenocarcinoma(60;0.00308)|LUSC - Lung squamous cell carcinoma(193;0.0398)|READ - Rectum adenocarcinoma(43;0.191) AAAACAAGGGCAGGCAGTTTT 0.443000 Base excision repair (BER), DNA glycosylases 6 102 0 0 0.021553 0 0 LIMS2 55679 broad.mit.edu 37 2 128412051 128412051 + Silent SNP G G A TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr2:128412051G>A ENST00000409455.1 - 4 926 c.291C>T c.(289-291)tgC>tgT p.C97C LIMS2_ENST00000410011.1_Silent_p.C97C|LIMS2_ENST00000355119.4_Silent_p.C102C|LIMS2_ENST00000409808.2_Silent_p.C97C|LIMS2_ENST00000545738.2_Silent_p.C124C|LIMS2_ENST00000324938.5_Silent_p.C126C Q7Z4I7 LIMS2_HUMAN LIM and senescent cell antigen-like domains 2 102 LIM zinc-binding 2. cell junction assembly cytosol|focal adhesion|nucleus zinc ion binding p.C126C(1) endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 15 Colorectal(110;0.1) BRCA - Breast invasive adenocarcinoma(221;0.0681) CACACAGCTCGCAGCGGAAGC 0.617000 33 73 0 0 0.050027 0 0 TNXB 7148 broad.mit.edu 37 6 32014187 32014187 + Silent SNP C C T TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr6:32014187C>T ENST00000375244.3 - 31 10572 c.10371G>A c.(10369-10371)gtG>gtA p.V3457V TNXB_ENST00000375247.2_Silent_p.V3455V P22105 TENX_HUMAN tenascin XB 3502 Fibronectin type-III 26. actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction extracellular space|intracellular|proteinaceous extracellular matrix heparin binding|integrin binding p.V3457V(1)|p.V3522V(1) endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1) 8 TCTCCTCAGCCACGGTCAGTT 0.632000 7 20 0 0 0.047766 0 0 CHD3 1107 broad.mit.edu 37 17 7806657 7806657 + Missense_Mutation SNP C C T TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr17:7806657C>T ENST00000380358.4 + 23 3741 c.3740C>T c.(3739-3741)gCg>gTg p.A1247V CHD3_ENST00000330494.7_Missense_Mutation_p.A1188V|CHD3_ENST00000358181.4_Missense_Mutation_p.A1188V NM_001005271.2 NP_001005271.2 Q12873 CHD3_HUMAN chromodomain helicase DNA binding protein 3 1188 chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent microtubule organizing center|NuRD complex ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|zinc ion binding p.A1188V(1) breast(2)|central_nervous_system(1)|cervix(2)|endometrium(11)|kidney(6)|large_intestine(13)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2) 65 Prostate(122;0.202) GTGACTCGCGCGTCAGTGGAA 0.582000 4 54 0 0 0.014758 0 0 CACNA1B 774 broad.mit.edu 37 9 140907677 140907677 + Missense_Mutation SNP T T G TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr9:140907677T>G ENST00000371372.1 + 18 2402 c.2257T>G c.(2257-2259)Tcc>Gcc p.S753A CACNA1B_ENST00000277550.3_Missense_Mutation_p.S44A|CACNA1B_ENST00000277551.2_Missense_Mutation_p.S753A|CACNA1B_ENST00000371363.1_Missense_Mutation_p.S753A|CACNA1B_ENST00000371355.4_Missense_Mutation_p.S754A|CACNA1B_ENST00000371357.1_Missense_Mutation_p.S754A|CACNA1B_ENST00000277549.5_5'UTR NM_000718.3|NM_001243812.1 NP_000709.1|NP_001230741.1 Q00975 CAC1B_HUMAN calcium channel, voltage-dependent, N type, alpha 1B subunit 753 membrane depolarization|synaptic transmission voltage-gated calcium channel complex ATP binding|protein C-terminus binding|voltage-gated calcium channel activity p.S44A(1)|p.S753A(1) NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2) 80 all_cancers(76;0.166) OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476) Amlodipine(DB00381)|Gabapentin(DB00996) CGCGAACATCTCCATCGCCGC 0.602000 7 26 0 0 0.058154 0 0 TP53 7157 broad.mit.edu 37 17 7577121 7577121 + Missense_Mutation SNP G G T rs121913343 TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr17:7577121G>T ENST00000420246.2 - 8 949 c.817C>A c.(817-819)Cgt>Agt p.R273S TP53_ENST00000269305.4_Missense_Mutation_p.R273S|TP53_ENST00000413465.2_Intron|TP53_ENST00000445888.2_Missense_Mutation_p.R273S|TP53_ENST00000455263.2_Missense_Mutation_p.R273S|TP53_ENST00000359597.4_Missense_Mutation_p.R273S NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 273 Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity). R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; dbSNP:rs28934576).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.R273C(481)|p.R273S(16)|p.R273G(9)|p.0?(8)|p.?(2)|p.R273fs*72(2)|p.R273fs*33(2)|p.R273fs*32(2)|p.V272>?(2)|p.F270fs*72(1)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.E258fs*71(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.E271_R273delEVR(1)|p.V272_K292del21(1) NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79) 24185 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) GCACAAACACGCACCTCAAAG 0.542000 R273C(8MGBA_CENTRAL_NERVOUS_SYSTEM)|R273C(BL70_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(EFO27_OVARY)|R273C(KARPAS299_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(MFE319_ENDOMETRIUM)|R273C(NCIH1048_LUNG)|R273C(PANC0213_PANCREAS)|R273C(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(RDES_BONE)|R273C(RH30_SOFT_TISSUE)|R273C(RPMI8402_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SH10TC_STOMACH)|R273C(SJRH30_SOFT_TISSUE)|R273C(SUDHL4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SW1710_URINARY_TRACT)|R273C(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273C(TT2609C02_THYROID) 111 """Mis, N, F""" """breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types""" """breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types""" Other conserved DNA damage response genes Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 7 10 3.09899e-07 3.30975e-07 0.047766 1 0 MYLK 4638 broad.mit.edu 37 3 123452592 123452592 + Missense_Mutation SNP C C G TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr3:123452592C>G ENST00000360772.3 - 11 1629 c.1251G>C c.(1249-1251)gaG>gaC p.E417D MYLK_ENST00000346322.5_Missense_Mutation_p.E417D|MYLK_ENST00000475616.1_Missense_Mutation_p.E417D|MYLK_ENST00000359169.1_Missense_Mutation_p.E417D|MYLK_ENST00000360304.3_Missense_Mutation_p.E417D Q15746 MYLK_HUMAN myosin light chain kinase 417 Ig-like C2-type 3. aorta smooth muscle tissue morphogenesis|muscle contraction cytosol actin binding|ATP binding|calmodulin binding|metal ion binding|myosin light chain kinase activity p.E417D(1) NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 113 Lung NSC(201;0.0496) GBM - Glioblastoma multiforme(114;0.0736) GGGGCTTGCTCTCAAATTTGG 0.517000 12 143 0 0 0.093190 0 0 ZNF616 90317 broad.mit.edu 37 19 52620235 52620235 + Missense_Mutation SNP T T C TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr19:52620235T>C ENST00000600228.1 - 4 443 c.182A>G c.(181-183)gAg>gGg p.E61G ZNF616_ENST00000596290.1_3'UTR|ZNF616_ENST00000330123.5_3'UTR NM_178523.3 NP_848618.2 Q08AN1 ZN616_HUMAN zinc finger protein 616 61 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.E61G(1) breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(14)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 48 GBM - Glioblastoma multiforme(134;0.00392)|OV - Ovarian serous cystadenocarcinoma(262;0.0189) ATTACTGTTCTCTGTTGGTGG 0.323000 14 232 0 0 0.132662 0 0 NCOA1 8648 broad.mit.edu 37 2 24929441 24929441 + Missense_Mutation SNP C C T TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr2:24929441C>T ENST00000405141.1 + 14 1813 c.1102C>T c.(1102-1104)Cac>Tac p.H368Y NCOA1_ENST00000406961.1_Missense_Mutation_p.H368Y|NCOA1_ENST00000348332.3_Missense_Mutation_p.H368Y|NCOA1_ENST00000407230.1_Missense_Mutation_p.H217Y|NCOA1_ENST00000395856.3_Missense_Mutation_p.H368Y|NCOA1_ENST00000538539.1_Missense_Mutation_p.H368Y|NCOA1_ENST00000288599.5_Missense_Mutation_p.H368Y Q15788 NCOA1_HUMAN nuclear receptor coactivator 1 368 Interaction with STAT3. p.H368Y(2) PAX3/NCOA1(8) breast(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(26)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 53 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) CCCTAGGGAGCACAGTGGGCT 0.378000 T PAX3 alveolar rhadomyosarcoma 4 63 0 0 0.021553 0 0 FAM166A 401565 broad.mit.edu 37 9 140139656 140139656 + Missense_Mutation SNP C C G TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr9:140139656C>G ENST00000344774.4 - 4 591 c.537G>C c.(535-537)caG>caC p.Q179H FAM166A_ENST00000388932.2_Missense_Mutation_p.Q179H NM_001001710.1 NP_001001710.1 Q6J272 F166A_HUMAN family with sequence similarity 166, member A 179 p.Q179H(1) kidney(3)|lung(7)|ovary(2)|prostate(1)|urinary_tract(2) 15 ACTCATCCCTCTGGCAGTGGT 0.667000 4 45 0 0 0.021553 0 0 USP6NL 9712 broad.mit.edu 37 10 11505382 11505382 + Silent SNP G G A TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr10:11505382G>A ENST00000609104.1 - 15 1939 c.1545C>T c.(1543-1545)ctC>ctT p.L515L USP6NL_ENST00000277575.5_Silent_p.L532L|USP6NL_ENST00000379237.2_Silent_p.L538L NM_014688.2 NP_055503.1 Q92738 US6NL_HUMAN USP6 N-terminal like intracellular Rab GTPase activator activity p.L532L(1) endometrium(3)|kidney(2)|large_intestine(6)|lung(18)|prostate(1)|skin(1)|urinary_tract(1) 32 CGGTAACTGCGAGCGCGGGGT 0.587000 23 145 0 0 0.083992 0 0 MED13 9969 broad.mit.edu 37 17 60023934 60023934 + Silent SNP G G C TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr17:60023934G>C ENST00000397786.2 - 30 6496 c.6420C>G c.(6418-6420)ctC>ctG p.L2140L NM_005121.2 NP_005112.2 Q9UHV7 MED13_HUMAN mediator complex subunit 13 2140 androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter mediator complex ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding p.L2140L(1) breast(4)|central_nervous_system(1)|endometrium(10)|kidney(24)|large_intestine(15)|liver(1)|lung(20)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 88 TTAGCCAGGAGAGTGCATTGT 0.373000 7 85 0 0 0.029380 0 0 VGLL4 9686 broad.mit.edu 37 3 11643348 11643348 + Missense_Mutation SNP G G C TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr3:11643348G>C ENST00000273038.3 - 3 578 c.213C>G c.(211-213)aaC>aaG p.N71K VGLL4_ENST00000413604.1_Missense_Mutation_p.N12K|VGLL4_ENST00000430365.2_Missense_Mutation_p.N77K|VGLL4_ENST00000404339.1_Missense_Mutation_p.N76K NM_001284391.1|NM_014667.2 NP_001271320.1|NP_055482.2 Q14135 VGLL4_HUMAN vestigial like 4 (Drosophila) 71 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus p.N71K(1)|p.N77K(1) NS(1)|endometrium(1)|large_intestine(1)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 10 LUSC - Lung squamous cell carcinoma(1;0.089)|Lung(1;0.111) AGACGTGGTCGTTGTCACAGT 0.557000 20 84 0 0 0.062417 0 0 ANKFY1 51479 broad.mit.edu 37 17 4086740 4086740 + Missense_Mutation SNP G G C TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr17:4086740G>C ENST00000341657.4 - 14 1940 c.1905C>G c.(1903-1905)agC>agG p.S635R CYB5D2_ENST00000573984.1_Intron|ANKFY1_ENST00000574367.1_Missense_Mutation_p.S635R|ANKFY1_ENST00000570535.1_Missense_Mutation_p.S677R NM_016376.3 NP_057460.3 Q9P2R3 ANFY1_HUMAN ankyrin repeat and FYVE domain containing 1 635 endosome membrane metal ion binding|protein binding p.S635R(1) breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(11)|liver(1)|lung(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 32 GTGCGCTCTTGCTGTCCTGCC 0.557000 10 50 0 0 0.069234 0 0 MCC 4163 broad.mit.edu 37 5 112421001 112421001 + Missense_Mutation SNP C C T TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr5:112421001C>T ENST00000302475.4 - 7 1398 c.835G>A c.(835-837)Gag>Aag p.E279K MCC_ENST00000514701.3_5'UTR|MCC_ENST00000515367.2_Missense_Mutation_p.E216K|MCC_ENST00000408903.3_Missense_Mutation_p.E469K NM_002387.2 NP_002378 P23508 CRCM_HUMAN mutated in colorectal cancers 279 negative regulation of canonical Wnt receptor signaling pathway|negative regulation of epithelial cell migration|negative regulation of epithelial cell proliferation|Wnt receptor signaling pathway cytoplasm|nucleus|plasma membrane protein binding|receptor activity p.E279K(1)|p.E469K(1) endometrium(4)|kidney(3)|large_intestine(15)|liver(2)|lung(8)|ovary(2)|pancreas(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 42 all_cancers(142;5.89e-08)|all_epithelial(76;3.57e-11)|all_lung(232;0.000605)|Lung NSC(810;0.000697)|Colorectal(10;0.00146)|Prostate(80;0.00174)|Ovarian(225;0.0175)|Breast(839;0.198) OV - Ovarian serous cystadenocarcinoma(64;2.04e-54)|Epithelial(69;9.69e-49)|all cancers(49;6.25e-44)|COAD - Colon adenocarcinoma(37;0.0432)|Colorectal(14;0.0766) GTTTGAAGCTCTCTGACCTGA 0.532000 27 103 0 0 0.091800 0 0 OSR2 116039 broad.mit.edu 37 8 99961627 99961627 + Silent SNP C C A TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr8:99961627C>A ENST00000297565.4 + 2 943 c.447C>A c.(445-447)ggC>ggA p.G149G OSR2_ENST00000523368.1_Silent_p.G149G|OSR2_ENST00000435298.2_Silent_p.G149G|OSR2_ENST00000457907.2_Silent_p.G270G|OSR2_ENST00000522510.1_Silent_p.G149G NM_001142462.1 NP_001135934.1 Q8N2R0 OSR2_HUMAN odd-skipped related transciption factor 2 149 bone morphogenesis|chondrocyte differentiation|embryonic digit morphogenesis|embryonic forelimb morphogenesis|embryonic hindlimb morphogenesis|embryonic leg joint morphogenesis|embryonic skeletal joint morphogenesis|eyelid development in camera-type eye|head development|mesonephros development|metanephros development|middle ear morphogenesis|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|osteoblast proliferation|palate development|positive regulation of bone mineralization|positive regulation of epithelial cell proliferation|positive regulation of transcription from RNA polymerase II promoter nucleus sequence-specific DNA binding|zinc ion binding p.G149G(1) NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(14)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 25 Breast(36;4.14e-07) OV - Ovarian serous cystadenocarcinoma(57;0.0136) CCATCTCGGGCCTCAGTAAAT 0.532000 14 218 0.00316338 0.00323198 0.132662 1 0 CYFIP1 23191 broad.mit.edu 37 15 22980128 22980128 + Missense_Mutation SNP C C G TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr15:22980128C>G ENST00000313077.7 + 23 2751 c.2626C>G c.(2626-2628)Caa>Gaa p.Q876E CYFIP1_ENST00000435939.2_Missense_Mutation_p.Q445E|CYFIP1_ENST00000560848.1_Missense_Mutation_p.Q876E NM_014608.2 NP_055423.1 Q7L576 CYFP1_HUMAN cytoplasmic FMR1 interacting protein 1 876 axon extension|lamellipodium assembly|regulation of cell shape|ruffle organization cell junction|lamellipodium|mRNA cap binding complex|perinuclear region of cytoplasm|ruffle|synapse|synaptosome actin filament binding|Rac GTPase binding p.Q876E(1)|p.Q445E(1) endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|liver(1)|lung(14)|ovary(4)|pancreas(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 40 all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488) all cancers(64;2.22e-06)|Epithelial(43;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00101) TCAGGAATTTCAAAGAGATAA 0.358000 14 151 0 0 0.119110 0 0 SACS 26278 broad.mit.edu 37 13 23915126 23915126 + Silent SNP A A G TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr13:23915126A>G ENST00000382298.3 - 10 3477 c.2889T>C c.(2887-2889)tcT>tcC p.S963S SACS_ENST00000402364.1_Silent_p.S213S|SACS_ENST00000382292.3_Silent_p.S963S NM_014363.4 NP_055178.3 Q9NZJ4 SACS_HUMAN spastic ataxia of Charlevoix-Saguenay (sacsin) 963 cell death|negative regulation of inclusion body assembly|protein folding axon|cell body fiber|dendrite|mitochondrion|nucleus ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding p.S963S(1)|p.S816S(1) NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11) 189 all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128) all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189) TTACTGAAATAGAAAGTCGCA 0.363000 25 91 0 0 0.083992 0 0 SP3 6670 broad.mit.edu 37 2 174819648 174819648 + Missense_Mutation SNP G G A TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr2:174819648G>A ENST00000310015.6 - 4 2122 c.1592C>T c.(1591-1593)tCt>tTt p.S531F SP3_ENST00000455789.2_Missense_Mutation_p.S478F|SP3_ENST00000418194.2_Missense_Mutation_p.S463F NM_001172712.1|NM_003111.4 NP_001166183.1|NP_003102.1 Q02447 SP3_HUMAN Sp3 transcription factor 531 negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent PML body protein binding|zinc ion binding p.S531F(1) EWSR1/SP3(3) NS(2)|large_intestine(3)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 9 OV - Ovarian serous cystadenocarcinoma(117;0.185) TATACCAGCAGAATCTATAGA 0.433000 5 122 0 0 0.014758 0 0 TAF1 6872 broad.mit.edu 37 X 70601652 70601652 + Missense_Mutation SNP G G C TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chrX:70601652G>C ENST00000449580.1 + 9 1468 c.1417G>C c.(1417-1419)Gag>Cag p.E473Q TAF1_ENST00000423759.1_Missense_Mutation_p.E494Q|TAF1_ENST00000373790.4_Missense_Mutation_p.E473Q|TAF1_ENST00000276072.3_Missense_Mutation_p.E494Q P21675 TAF1_HUMAN TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa 473 G1 phase of mitotic cell cycle|interspecies interaction between organisms|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription initiation from RNA polymerase II promoter|protein autophosphorylation|regulation of transcription involved in G2/M-phase of mitotic cell cycle|RNA polymerase II transcriptional preinitiation complex assembly|transcription elongation from RNA polymerase II promoter|viral reproduction MLL1 complex|transcription factor TFIID complex ATP binding|histone acetyl-lysine binding|histone acetyltransferase activity|p53 binding|protein binding|protein serine/threonine kinase activity|sequence-specific DNA binding|TBP-class protein binding|transcription coactivator activity p.E494Q(1)|p.E473K(1)|p.E494K(1)|p.E473Q(1) breast(13)|central_nervous_system(6)|cervix(1)|endometrium(25)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(16)|lung(34)|ovary(9)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3) 124 Renal(35;0.156) all_lung(315;0.000321) CATTGACAATGAGGATCTGGT 0.453000 5 216 0 0 0.021553 0 0 PPAP2B 8613 broad.mit.edu 37 1 56990203 56990203 + Silent SNP C C T TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr1:56990203C>T ENST00000371250.3 - 3 872 c.321G>A c.(319-321)cgG>cgA p.R107R NM_003713.4 NP_003704.3 O14495 LPP3_HUMAN phosphatidic acid phosphatase type 2B 107 canonical Wnt receptor signaling pathway involved in positive regulation of cell-cell adhesion|canonical Wnt receptor signaling pathway involved in positive regulation of endothelial cell migration|canonical Wnt receptor signaling pathway involved in positive regulation of wound healing|germ cell migration|homotypic cell-cell adhesion|negative regulation of protein phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|sphingolipid metabolic process adherens junction|Golgi apparatus|integral to membrane phosphatidate phosphatase activity|phosphoprotein phosphatase activity|protein binding|sphingosine-1-phosphate phosphatase activity p.R107R(1) cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 17 GGTAATAGATCCGGTAGAATT 0.483000 20 78 0 0 0.069288 0 0 CSTF2T 23283 broad.mit.edu 37 10 53458275 53458275 + Silent SNP G G C TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr10:53458275G>C ENST00000331173.4 - 1 1080 c.1035C>G c.(1033-1035)gtC>gtG p.V345V PRKG1_ENST00000401604.2_Intron|PRKG1_ENST00000373985.1_Intron|PRKG1_ENST00000373980.4_Intron NM_015235.2 NP_056050.1 Q9H0L4 CSTFT_HUMAN cleavage stimulation factor, 3' pre-RNA, subunit 2, 64kDa, tau variant 345 Gly-rich. mRNA processing nucleus nucleotide binding|RNA binding p.V345V(1) NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(6)|ovary(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 30 COAD - Colon adenocarcinoma(2;0.00736)|Colorectal(2;0.00898)|all cancers(4;0.0188)|GBM - Glioblastoma multiforme(4;0.0778)|Epithelial(53;0.122) CTTCTCCAGTGACTGAAAGCA 0.582000 20 73 0 0 0.049695 0 0 ATP6V1C1 528 broad.mit.edu 37 8 104054610 104054610 + Missense_Mutation SNP G G C TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr8:104054610G>C ENST00000395862.3 + 3 334 c.175G>C c.(175-177)Gct>Cct p.A59P ATP6V1C1_ENST00000518857.1_Intron|ATP6V1C1_ENST00000518738.1_Missense_Mutation_p.A59P|ATP6V1C1_ENST00000521514.1_5'UTR NM_001695.4 NP_001686.1 P21283 VATC1_HUMAN ATPase, H+ transporting, lysosomal 42kDa, V1 subunit C1 59 ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport cytosol|plasma membrane|proton-transporting V-type ATPase, V1 domain protein binding|proton-transporting ATPase activity, rotational mechanism p.A59P(1) breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(6)|urinary_tract(1) 13 Lung NSC(17;0.000427)|all_lung(17;0.000533) OV - Ovarian serous cystadenocarcinoma(57;3.57e-05)|STAD - Stomach adenocarcinoma(118;0.133) AGATGAACTGGCTAAACTGGA 0.368000 8 192 0 0 0.047766 0 0 MRPL22 29093 broad.mit.edu 37 5 154346442 154346442 + Silent SNP C C T TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr5:154346442C>T ENST00000523037.1 + 7 647 c.606C>T c.(604-606)atC>atT p.I202I MRPL22_ENST00000518364.1_3'UTR|MRPL22_ENST00000439747.3_Silent_p.I228I|MRPL22_ENST00000522038.1_Silent_p.I208I|MRPL22_ENST00000265229.8_Silent_p.I122I NM_014180.3 NP_054899.2 Q9NWU5 RM22_HUMAN mitochondrial ribosomal protein L22 202 translation large ribosomal subunit|mitochondrion structural constituent of ribosome p.I202I(1) central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|urinary_tract(2) 10 Renal(175;0.00488) Medulloblastoma(196;0.0354)|all_neural(177;0.147) KIRC - Kidney renal clear cell carcinoma(527;0.00112) GCCGGACCATCGTTCACACTC 0.438000 4 20 0 0 0.009096 0 0 LY75 4065 broad.mit.edu 37 2 160738705 160738705 + Missense_Mutation SNP G G C TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr2:160738705G>C ENST00000263636.4 - 7 1203 c.1176C>G c.(1174-1176)ttC>ttG p.F392L LY75_ENST00000553424.1_Missense_Mutation_p.F392L|LY75-CD302_ENST00000504764.1_Missense_Mutation_p.F392L|LY75_ENST00000554112.1_Missense_Mutation_p.F392L|LY75-CD302_ENST00000505052.1_Missense_Mutation_p.F392L NM_002349.3 NP_002340.2 lymphocyte antigen 75 p.F392L(1) NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(22)|prostate(7)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 59 COAD - Colon adenocarcinoma(177;0.132) GGTCACTACTGAAGGCTTTGC 0.423000 15 121 0 0 0.146539 0 0 TNKS1BP1 85456 broad.mit.edu 37 11 57080263 57080263 + Silent SNP G G A TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr11:57080263G>A ENST00000532437.1 - 4 2210 c.1899C>T c.(1897-1899)ctC>ctT p.L633L TNKS1BP1_ENST00000358252.3_Silent_p.L633L Q9C0C2 TB182_HUMAN tankyrase 1 binding protein 1, 182kDa 633 Acidic.|Pro-rich. nuclear-transcribed mRNA poly(A) tail shortening|telomere maintenance via telomerase cytoskeleton|cytosol|nuclear telomeric heterochromatin ankyrin binding|enzyme binding p.L633L(1) breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 64 all_epithelial(135;0.21) CATCAGCAAAGAGAACACAGG 0.662000 10 24 0 0 0.132662 0 0 PLA2G4B 100137049 broad.mit.edu 37 15 42138489 42138489 + Missense_Mutation SNP G G T TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr15:42138489G>T ENST00000542534.2 + 22 2422 c.2382G>T c.(2380-2382)tgG>tgT p.W794C PLA2G4B_ENST00000458483.1_Missense_Mutation_p.W563C|PLA2G4B_ENST00000452633.1_Missense_Mutation_p.W563C|JMJD7-PLA2G4B_ENST00000382448.4_Missense_Mutation_p.W794C|JMJD7-PLA2G4B_ENST00000342159.4_Missense_Mutation_p.W794C NM_005090.3 NP_005081.1 phospholipase A2, group IVB (cytosolic) p.W794C(1) all_cancers(109;1.84e-13)|all_epithelial(112;5.15e-12)|Lung NSC(122;3.74e-08)|all_lung(180;1.81e-07)|Melanoma(134;0.0262) all cancers(2;1.08e-30)|Epithelial(2;1.43e-22)|OV - Ovarian serous cystadenocarcinoma(18;1.13e-17)|GBM - Glioblastoma multiforme(94;9.77e-07)|Colorectal(2;0.0129)|COAD - Colon adenocarcinoma(120;0.0371) TTCTGACGTGGCGTCCACTGG 0.522000 6 89 0.00198382 0.0020416 0.029380 1 0 CRELD1 78987 broad.mit.edu 37 3 9979321 9979321 + Silent SNP G G A TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr3:9979321G>A ENST00000383811.3 + 3 932 c.333G>A c.(331-333)ctG>ctA p.L111L CRELD1_ENST00000452070.1_Silent_p.L111L|CRELD1_ENST00000397170.3_Silent_p.L111L|CRELD1_ENST00000326434.5_Silent_p.L111L NM_015513.4 NP_056328 Q96HD1 CREL1_HUMAN cysteine-rich with EGF-like domains 1 111 cardiac septum development|endocardial cushion development integral to membrane calcium ion binding p.L111L(2) NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|stomach(1)|urinary_tract(1) 14 TGCTGGAGCTGAGTGAGGAGC 0.602000 3 10 0 0 0.115264 0 0 ZNF16 7564 broad.mit.edu 37 8 146157055 146157055 + Missense_Mutation SNP C C A TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr8:146157055C>A ENST00000276816.4 - 4 1304 c.1118G>T c.(1117-1119)gGa>gTa p.G373V ZNF16_ENST00000394909.2_Missense_Mutation_p.G373V NM_001029976.2 NP_001025147.2 P17020 ZNF16_HUMAN zinc finger protein 16 373 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.G373V(1) breast(2)|endometrium(1)|kidney(4)|large_intestine(5)|lung(9)|ovary(5)|prostate(1)|skin(1)|urinary_tract(1) 29 all_cancers(97;8.72e-12)|all_epithelial(106;1.07e-10)|Lung NSC(106;7.18e-05)|all_lung(105;0.00021)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) Acute lymphoblastic leukemia(644;0.136) Epithelial(56;3.45e-38)|all cancers(56;3.04e-33)|BRCA - Breast invasive adenocarcinoma(115;0.0424)|Colorectal(110;0.055) GBM - Glioblastoma multiforme(99;0.02)|KIRC - Kidney renal clear cell carcinoma(644;0.0486) AGGCTTCTCTCCTGTGTGAGT 0.532000 4 115 0.00909568 0.00920422 0.009096 1 0 CACNA1I 8911 broad.mit.edu 37 22 40066081 40066081 + Silent SNP C C T TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr22:40066081C>T ENST00000336649.4 + 28 4251 c.4251C>T c.(4249-4251)ttC>ttT p.F1417F CACNA1I_ENST00000402142.3_Silent_p.F1411F|CACNA1I_ENST00000401624.1_Silent_p.F1411F|CACNA1I_ENST00000400164.3_Silent_p.F1376F|CACNA1I_ENST00000407673.1_Silent_p.F1376F|CACNA1I_ENST00000404898.1_Silent_p.F1376F Q9P0X4 CAC1I_HUMAN calcium channel, voltage-dependent, T type, alpha 1I subunit 1411 axon guidance|signal transduction voltage-gated calcium channel complex low voltage-gated calcium channel activity|protein binding p.F1376F(1)|p.F1411F(1) breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(2)|lung(27)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 60 Melanoma(58;0.0749) Flunarizine(DB04841)|Paramethadione(DB00617)|Verapamil(DB00661) TGCTGTACTTCATCTCCTTCC 0.577000 37 194 0 0 0.092188 0 0 FAM178A 55719 broad.mit.edu 37 10 102676898 102676898 + Missense_Mutation SNP G G C TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr10:102676898G>C ENST00000238961.4 + 3 1298 c.756G>C c.(754-756)ttG>ttC p.L252F FAM178A_ENST00000370269.3_Missense_Mutation_p.L252F|FAM178A_ENST00000370271.3_Missense_Mutation_p.L252F NM_018121.3 NP_060591.3 Q8IX21 F178A_HUMAN family with sequence similarity 178, member A p.L252F(1) TAAAGAGGTTGAGAAAGGAGC 0.438000 12 76 0 0 0.105934 0 0 GPR180 160897 broad.mit.edu 37 13 95273419 95273419 + Missense_Mutation SNP A A G TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr13:95273419A>G ENST00000376958.4 + 6 849 c.824A>G c.(823-825)cAa>cGa p.Q275R NM_180989.5 NP_851320.1 Q86V85 GP180_HUMAN G protein-coupled receptor 180 275 integral to membrane p.Q275R(1) breast(1)|kidney(1)|large_intestine(3)|lung(4)|urinary_tract(1) 10 all_neural(89;0.0684)|Medulloblastoma(90;0.163) AAGAAGTCTCAAAGCAGACCT 0.423000 5 188 0 0 0.014758 0 0 BRIP1 83990 broad.mit.edu 37 17 59763273 59763273 + Silent SNP G G A TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr17:59763273G>A ENST00000259008.2 - 19 3096 c.2829C>T c.(2827-2829)gtC>gtT p.V943V BRIP1_ENST00000577598.1_Silent_p.V943V NM_032043.2 NP_114432.2 Q9BX63 FANCJ_HUMAN BRCA1 interacting protein C-terminal helicase 1 943 Interaction with BRCA1. DNA damage checkpoint|double-strand break repair|regulation of transcription from RNA polymerase II promoter cytoplasm|nucleus ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding p.V943V(2) NS(1)|breast(3)|endometrium(9)|kidney(5)|large_intestine(9)|liver(2)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6) 55 GTAGTTCCTGGACACATATCT 0.363000 """F, N, Mis""" """AML, leukemia, breast""" Involved in tolerance or repair of DNA crosslinks 44 323 0 0 0.139131 0 0 CXorf38 159013 broad.mit.edu 37 X 40496396 40496396 + Missense_Mutation SNP G G A TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chrX:40496396G>A ENST00000378426.1 - 3 724 c.127C>T c.(127-129)Cgt>Tgt p.R43C CXorf38_ENST00000378421.1_Missense_Mutation_p.R43C|CXorf38_ENST00000440784.2_Missense_Mutation_p.R77C|CXorf38_ENST00000327877.5_Missense_Mutation_p.R162C Q8TB03 CX038_HUMAN chromosome X open reading frame 38 162 p.R162C(1) NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(3)|ovary(1)|urinary_tract(1) 12 ATCTCATTACGACATTTAATT 0.338000 5 91 0 0 0.021553 0 0 GOLGB1 2804 broad.mit.edu 37 3 121410632 121410632 + Missense_Mutation SNP G G C TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr3:121410632G>C ENST00000393667.3 - 14 7689 c.7579C>G c.(7579-7581)Ctc>Gtc p.L2527V GOLGB1_ENST00000340645.5_Missense_Mutation_p.L2522V NM_001256486.1 NP_001243415.1 Q14789 GOGB1_HUMAN golgin B1 2522 Golgi organization ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane protein binding p.L2522V(1) NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13) 119 GBM - Glioblastoma multiforme(114;0.0989) TCAGAATTGAGATCATCCATA 0.393000 9 357 0 0 0.047766 0 0 SNX29P2 440352 broad.mit.edu 37 16 29376067 29376067 + RNA SNP G G C TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr16:29376067G>C ENST00000398878.3 + 0 1495 SNX29P2_ENST00000507381.1_RNA p.D118H(1) CTCATTTGATGATGAGGAAGA 0.408000 18 60 0 0 0.049695 0 0 MYCBP2 23077 broad.mit.edu 37 13 77825292 77825292 + Missense_Mutation SNP G G C TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr13:77825292G>C ENST00000407578.2 - 15 2641 c.2375C>G c.(2374-2376)cCc>cGc p.P792R MYCBP2_ENST00000357337.6_Missense_Mutation_p.P754R|MYCBP2_ENST00000544440.2_Missense_Mutation_p.P754R|MYCBP2_ENST00000360084.5_5'UTR NM_015057.4 NP_055872.4 O75592 MYCB2_HUMAN MYC binding protein 2, E3 ubiquitin protein ligase 754 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ligase activity|protein binding|zinc ion binding p.P754R(2)|p.P792R(1) NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 118 Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22) GBM - Glioblastoma multiforme(99;0.109) TTACCCTCCGGGGACTCTGTC 0.443000 8 65 0 0 0.038147 0 0 EPB41L4B 54566 broad.mit.edu 37 9 112018480 112018480 + Missense_Mutation SNP G G C TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr9:112018480G>C ENST00000374566.3 - 9 1382 c.865C>G c.(865-867)Ctt>Gtt p.L289V EPB41L4B_ENST00000374557.4_Missense_Mutation_p.L289V NM_019114.3 NP_061987.3 Q9H329 E41LB_HUMAN erythrocyte membrane protein band 4.1 like 4B 289 FERM. cytoplasm|cytoskeleton|extrinsic to membrane cytoskeletal protein binding|structural constituent of cytoskeleton p.L289V(2) NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 39 GTCAGTCCAAGAGAATATTCA 0.368000 30 159 0 0 0.054565 0 0 TTF2 8458 broad.mit.edu 37 1 117640030 117640030 + Missense_Mutation SNP C C A TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr1:117640030C>A ENST00000369466.4 + 21 3288 c.3244C>A c.(3244-3246)Cac>Aac p.H1082N NM_003594.3 NP_003585.3 Q9UNY4 TTF2_HUMAN transcription termination factor, RNA polymerase II Helicase C-terminal. mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|termination of RNA polymerase II transcription cytoplasm|spliceosomal complex|transcription elongation factor complex ATP binding|ATP-dependent helicase activity|DNA binding|DNA-dependent ATPase activity|protein binding|zinc ion binding p.H1082N(1) NS(1)|autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(24)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2) 50 Lung SC(450;0.225) all_cancers(81;4.23e-06)|all_epithelial(167;3.65e-07)|all_lung(203;2.81e-06)|Lung NSC(69;1.98e-05) Lung(183;0.0553)|Colorectal(144;0.179)|LUSC - Lung squamous cell carcinoma(189;0.19) TGGAGGAAATCACCTCTTTCT 0.463000 53 249 5.12918e-33 5.76862e-33 0.139131 1 0 HDAC6 10013 broad.mit.edu 37 X 48666514 48666514 + Missense_Mutation SNP G G T TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chrX:48666514G>T ENST00000334136.5 + 9 885 c.707G>T c.(706-708)cGc>cTc p.R236L HDAC6_ENST00000444343.2_Missense_Mutation_p.R250L|HDAC6_ENST00000469223.1_3'UTR|HDAC6_ENST00000376619.2_Missense_Mutation_p.R236L|HDAC6_ENST00000413163.2_Missense_Mutation_p.R181L Q9UBN7 HDAC6_HUMAN histone deacetylase 6 236 Histone deacetylase 1. aggresome assembly|cellular response to hydrogen peroxide|Hsp90 deacetylation|lysosome localization|macroautophagy|misfolded or incompletely synthesized protein catabolic process|negative regulation of proteolysis|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|polyubiquitinated misfolded protein transport|positive regulation of apoptosis|positive regulation of cellular chaperone-mediated protein complex assembly|positive regulation of epithelial cell migration|positive regulation of receptor biosynthetic process|positive regulation of signal transduction|regulation of androgen receptor signaling pathway|regulation of receptor activity|response to growth factor stimulus|response to toxin|transcription, DNA-dependent|tubulin deacetylation aggresome|caveola|cell leading edge|cytosol|histone deacetylase complex|microtubule associated complex|perinuclear region of cytoplasm actin binding|alpha-tubulin binding|beta-catenin binding|dynein complex binding|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|Hsp90 protein binding|microtubule binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|polyubiquitin binding|tau protein binding|tubulin deacetylase activity|zinc ion binding p.R236L(1) breast(2)|endometrium(6)|kidney(5)|large_intestine(8)|lung(9)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 40 Vorinostat(DB02546) GTGGCAGCCCGCTATGCTCAA 0.582000 5 10 0.000274275 0.000283641 0.047766 1 0 ITPR2 3709 broad.mit.edu 37 12 26839539 26839539 + Missense_Mutation SNP C C G TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr12:26839539C>G ENST00000381340.3 - 11 1439 c.1023G>C c.(1021-1023)aaG>aaC p.K341N NM_002223.2 NP_002214.2 Q14571 ITPR2_HUMAN inositol 1,4,5-trisphosphate receptor, type 2 341 MIR 4. activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity p.K341N(1) ETV6/ITPR2(2) biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3) 125 Colorectal(261;0.0847) GGCGTTTTTTCTTTGAAGTTG 0.413000 13 260 0 0 0.105934 0 0 GRK5 2869 broad.mit.edu 37 10 121156215 121156215 + Nonsense_Mutation SNP T T A TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr10:121156215T>A ENST00000392870.2 + 4 599 c.270T>A c.(268-270)taT>taA p.Y90* GRK5_ENST00000369108.3_5'UTR NM_005308.2 NP_005299.1 P34947 GRK5_HUMAN G protein-coupled receptor kinase 5 90 N-terminal.|RGS. G-protein signaling, coupled to cAMP nucleotide second messenger|regulation of G-protein coupled receptor protein signaling pathway|tachykinin receptor signaling pathway cytoplasm|plasma membrane|soluble fraction ATP binding|G-protein coupled receptor kinase activity|phospholipid binding|protein kinase C binding|signal transducer activity p.Y90*(1) endometrium(2)|large_intestine(5)|lung(15)|skin(3)|stomach(1)|urinary_tract(1) 27 Lung NSC(174;0.0971)|all_lung(145;0.127)|Ovarian(717;0.249) all cancers(201;0.0227) AGGCAGAATATGAAGTTACTC 0.438000 4 87 0 0 0.014758 0 0 PTCH1 5727 broad.mit.edu 37 9 98239043 98239043 + Missense_Mutation SNP C C G TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr9:98239043C>G ENST00000430669.2 - 11 1987 c.1402G>C c.(1402-1404)Gag>Cag p.E468Q PTCH1_ENST00000437951.1_Missense_Mutation_p.E468Q|PTCH1_ENST00000421141.1_Missense_Mutation_p.E383Q|PTCH1_ENST00000375274.2_Missense_Mutation_p.E533Q|PTCH1_ENST00000331920.6_Missense_Mutation_p.E534Q|PTCH1_ENST00000418258.1_Missense_Mutation_p.E383Q|PTCH1_ENST00000429896.2_Missense_Mutation_p.E383Q Q13635 PTC1_HUMAN patched 1 534 SSD. embryonic limb morphogenesis|negative regulation of multicellular organism growth|protein processing|regulation of smoothened signaling pathway|smoothened signaling pathway integral to plasma membrane hedgehog receptor activity p.E533Q(2)|p.E534Q(2) NS(8)|bone(33)|breast(10)|central_nervous_system(95)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(8)|kidney(2)|large_intestine(18)|lung(22)|meninges(1)|oesophagus(3)|ovary(6)|prostate(2)|skin(262)|upper_aerodigestive_tract(11)|urinary_tract(2)|vulva(1) 490 Medulloblastoma(1;7.87e-06)|all_neural(1;0.000555)|Acute lymphoblastic leukemia(62;0.136) TGCATTACCTCAAAAGGGATT 0.423000 4 23 0 0 0.014758 0 0 TRPM4 54795 broad.mit.edu 37 19 49692258 49692258 + Silent SNP C C G TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr19:49692258C>G ENST00000252826.5 + 14 2055 c.1929C>G c.(1927-1929)ctC>ctG p.L643L TRPM4_ENST00000427978.2_Silent_p.L643L|TRPM4_ENST00000355712.5_Silent_p.L289L NM_017636.3 NP_060106.2 Q8TD43 TRPM4_HUMAN transient receptor potential cation channel, subfamily M, member 4 643 dendritic cell chemotaxis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell proliferation|protein sumoylation|regulation of T cell cytokine production endoplasmic reticulum|Golgi apparatus|integral to membrane|plasma membrane ATP binding|calcium activated cation channel activity|calmodulin binding p.L643L(1) breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(18)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2) 49 all_lung(116;8.54e-05)|Lung NSC(112;0.000139)|all_neural(266;0.0506)|Ovarian(192;0.15) all cancers(93;2.88e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000222)|GBM - Glioblastoma multiforme(486;0.00339)|Epithelial(262;0.00751) GCCTCCTCCTCCGTCGCTGCC 0.617000 43 83 0 0 0.139131 0 0 PPT2-EGFL8 100532746 broad.mit.edu 37 6 32130348 32130348 + Missense_Mutation SNP C C G TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr6:32130348C>G ENST00000422437.1 + 8 905 c.714C>G c.(712-714)ttC>ttG p.F238L PPT2_ENST00000395523.1_Missense_Mutation_p.F238L|PPT2-EGFL8_ENST00000453656.2_3'UTR|PPT2_ENST00000375143.2_Missense_Mutation_p.F238L|PPT2_ENST00000445576.2_Missense_Mutation_p.F238L|PPT2_ENST00000493548.1_3'UTR|PPT2_ENST00000437001.2_Missense_Mutation_p.F115L|PPT2_ENST00000361568.2_Missense_Mutation_p.F244L|PPT2_ENST00000324816.6_Missense_Mutation_p.F238L|PPT2_ENST00000375137.2_Missense_Mutation_p.F238L p.F244L(1) TTTGTAGCTTCTTTGGTTTCT 0.532000 71 234 0 0 0.139131 0 0 KIFC2 90990 broad.mit.edu 37 8 145693255 145693255 + Nonsense_Mutation SNP C C G TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr8:145693255C>G ENST00000301332.2 + 7 1072 c.695C>G c.(694-696)tCa>tGa p.S232* KIFC2_ENST00000301331.5_5'UTR NM_145754.2 NP_665697.1 Q96AC6 KIFC2_HUMAN kinesin family member C2 232 Gln-rich. microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity|protein binding p.S232*(1) central_nervous_system(1)|endometrium(1)|kidney(1)|lung(7)|ovary(3)|prostate(3)|skin(2)|urinary_tract(1) 19 all_cancers(97;4.61e-11)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;1.08e-41)|Epithelial(56;8.67e-41)|all cancers(56;1.1e-35)|BRCA - Breast invasive adenocarcinoma(115;0.035)|Colorectal(110;0.055) GCGACGGACTCAGAGAAAAGG 0.667000 OREG0019057 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 4 59 0 0 0.014758 0 0 PDE4DIP 9659 broad.mit.edu 37 1 144922578 144922578 + Missense_Mutation SNP G G C TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr1:144922578G>C ENST00000529945.1 - 3 1757 c.1318C>G c.(1318-1320)Caa>Gaa p.Q440E PDE4DIP_ENST00000369356.4_Missense_Mutation_p.Q277E|PDE4DIP_ENST00000313382.9_Missense_Mutation_p.Q343E|PDE4DIP_ENST00000479408.2_Missense_Mutation_p.Q64E|PDE4DIP_ENST00000313431.9_Missense_Mutation_p.Q440E|PDE4DIP_ENST00000369359.4_Missense_Mutation_p.Q414E|PDE4DIP_ENST00000369354.3_Missense_Mutation_p.Q277E|PDE4DIP_ENST00000369351.3_Missense_Mutation_p.Q277E|PDE4DIP_ENST00000369349.3_Missense_Mutation_p.Q277E|PDE4DIP_ENST00000530740.1_Missense_Mutation_p.Q414E Q5VU43 MYOME_HUMAN phosphodiesterase 4D interacting protein 277 cellular protein complex assembly centrosome|Golgi apparatus|myofibril|nucleus enzyme binding p.Q277E(2)|p.Q440E(1) NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2) 176 Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126) TCTTGCTTTTGAGACGACTCC 0.373000 T PDGFRB MPD 69 762 0 0 0.139131 0 0 EPS8L2 64787 broad.mit.edu 37 11 721618 721618 + Silent SNP G G A TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr11:721618G>A ENST00000533256.1 + 11 1197 c.822G>A c.(820-822)caG>caA p.Q274Q EPS8L2_ENST00000526198.1_Silent_p.Q290Q|EPS8L2_ENST00000318562.8_Silent_p.Q274Q|AP006621.9_ENST00000527021.2_RNA|EPS8L2_ENST00000530636.1_Silent_p.Q274Q Q9H6S3 ES8L2_HUMAN EPS8-like 2 274 cytoplasm p.Q274Q(1) NS(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|pancreas(1)|prostate(2)|soft_tissue(1)|urinary_tract(1) 13 all_cancers(49;1.24e-08)|all_epithelial(84;1.87e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.106)|all_lung(207;0.136) all cancers(45;4.37e-27)|Epithelial(43;2.81e-26)|OV - Ovarian serous cystadenocarcinoma(40;1.33e-20)|BRCA - Breast invasive adenocarcinoma(625;4.29e-05)|Lung(200;0.0582)|LUSC - Lung squamous cell carcinoma(625;0.0703) CCCGGCTGCAGAAGGCAGCCG 0.647000 6 5 0 0 0.029380 0 0 OR9Q2 219957 broad.mit.edu 37 11 57958572 57958572 + Missense_Mutation SNP C C G TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr11:57958572C>G ENST00000311591.3 + 1 667 c.610C>G c.(610-612)Ctt>Gtt p.L204V NM_001005283.2 NP_001005283.1 Q8NGE9 OR9Q2_HUMAN olfactory receptor, family 9, subfamily Q, member 2 204 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.L204V(1) breast(2)|central_nervous_system(2)|endometrium(1)|large_intestine(3)|lung(24)|ovary(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 41 Breast(21;0.0589) TGTGTTTGCTCTTTTCGTCAT 0.473000 35 25 0 0 0.069456 0 0 TOR1AIP2 163590 broad.mit.edu 37 1 179834235 179834235 + Missense_Mutation SNP T T A TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr1:179834235T>A ENST00000553856.1 - 1 76 c.77A>T c.(76-78)tAc>tTc p.Y26F TOR1AIP2_ENST00000482587.1_5'UTR|TOR1AIP2_ENST00000367612.3_Intron|TOR1AIP2_ENST00000609928.1_Intron NM_022347.3 NP_071742.1 p.Y26F(2) TTCAGTTTGGTACAACCAGTG 0.393000 10 171 0 0 0.080935 0 0 SEC14L3 266629 broad.mit.edu 37 22 30866040 30866040 + Missense_Mutation SNP T T A TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr22:30866040T>A ENST00000403066.1 - 5 306 c.23A>T c.(22-24)gAt>gTt p.D8V SEC14L3_ENST00000402286.1_5'UTR|SEC14L3_ENST00000401751.1_Missense_Mutation_p.D8V|SEC14L3_ENST00000215812.4_Missense_Mutation_p.D67V|SEC14L3_ENST00000539629.1_Missense_Mutation_p.D8V|SEC14L3_ENST00000415957.2_Missense_Mutation_p.D8V|SEC14L3_ENST00000540910.1_5'UTR Q9UDX4 S14L3_HUMAN SEC14-like 3 (S. cerevisiae) 67 integral to membrane|intracellular lipid binding|transporter activity p.D67V(1) NS(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(3)|pancreas(1)|skin(2)|urinary_tract(1) 19 Vitamin E(DB00163) ATGGTCAATATCCATGGTCTT 0.542000 109 59 0 0 0.139131 0 0 TRRAP 8295 broad.mit.edu 37 7 98588176 98588176 + Missense_Mutation SNP G G T TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr7:98588176G>T ENST00000359863.4 + 63 9911 c.9702G>T c.(9700-9702)tgG>tgT p.W3234C TRRAP_ENST00000446306.3_Missense_Mutation_p.W3205C|TRRAP_ENST00000355540.3_Missense_Mutation_p.W3205C NM_001244580.1 NP_001231509.1 Q9Y4A5 TRRAP_HUMAN transformation/transcription domain-associated protein 3234 FAT. histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity p.W3205C(1)|p.W3234C(1) NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2) 176 all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274) STAD - Stomach adenocarcinoma(171;0.215) GGCTGGCCTGGATCCCACAGC 0.552000 12 68 1.33834e-09 1.45875e-09 0.043863 1 0 NES 10763 broad.mit.edu 37 1 156642464 156642464 + Missense_Mutation SNP C C G TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr1:156642464C>G ENST00000368223.3 - 4 1648 c.1516G>C c.(1516-1518)Gag>Cag p.E506Q NM_006617.1 NP_006608.1 P48681 NEST_HUMAN nestin 506 Tail. brain development|embryonic camera-type eye development|G2/M transition of mitotic cell cycle|negative regulation of apoptosis|positive regulation of intermediate filament depolymerization|positive regulation of neural precursor cell proliferation|stem cell proliferation cytoplasm|intermediate filament intermediate filament binding|structural molecule activity p.E506Q(1) central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(30)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(4) 64 all_hematologic(923;0.088)|Hepatocellular(266;0.158) GTTTCTTTCTCTACCAACCCC 0.502000 31 267 0 0 0.059317 0 0 SHKBP1 92799 broad.mit.edu 37 19 41094536 41094536 + Missense_Mutation SNP C C T TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr19:41094536C>T ENST00000291842.5 + 14 1392 c.1343C>T c.(1342-1344)gCc>gTc p.A448V SHKBP1_ENST00000597649.1_3'UTR|SHKBP1_ENST00000600733.1_Missense_Mutation_p.A423V NM_138392.3 NP_612401.2 Q8TBC3 SHKB1_HUMAN SH3KBP1 binding protein 1 448 voltage-gated potassium channel complex voltage-gated potassium channel activity p.A448V(1) breast(1)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(10)|ovary(2)|pancreas(1)|skin(3)|urinary_tract(1) 29 Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384) TCAGTCTGTGCCGACAACAAC 0.617000 6 431 0 0 0.021553 0 0 NRIP1 8204 broad.mit.edu 37 21 16340220 16340220 + Silent SNP C C T TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr21:16340220C>T ENST00000400202.1 - 3 1006 c.294G>A c.(292-294)cgG>cgA p.R98R NRIP1_ENST00000318948.4_Silent_p.R98R|NRIP1_ENST00000400199.1_Silent_p.R98R P48552 NRIP1_HUMAN nuclear receptor interacting protein 1 98 Repression domain 1. androgen receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent androgen receptor binding|estrogen receptor binding|glucocorticoid receptor binding|transcription coactivator activity|transcription corepressor activity p.R98R(1) cervix(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|lung(13)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4) 39 Epithelial(23;1.19e-05)|all cancers(11;4.64e-05)|COAD - Colon adenocarcinoma(22;0.000232)|Colorectal(24;0.0006)|OV - Ovarian serous cystadenocarcinoma(11;0.00418)|Lung(58;0.199)|LUSC - Lung squamous cell carcinoma(23;0.24) ACAGCCTCTTCCGCTTTGCTG 0.458000 15 101 0 0 0.146539 0 0 FEM1A 55527 broad.mit.edu 37 19 4793524 4793524 + Missense_Mutation SNP A A G TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr19:4793524A>G ENST00000269856.3 + 1 1797 c.1658A>G c.(1657-1659)tAt>tGt p.Y553C AC005523.2_ENST00000601192.1_RNA NM_018708.2 NP_061178.1 Q9BSK4 FEM1A_HUMAN fem-1 homolog a (C. elegans) 553 regulation of ubiquitin-protein ligase activity cytoplasm binding|ubiquitin-protein ligase activity p.Y553C(1) breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 17 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0139) GTGGGCCGCTATCCCGTGGGC 0.632000 16 28 0 0 0.146539 0 0 TGS1 96764 broad.mit.edu 37 8 56698335 56698335 + Missense_Mutation SNP A A T TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr8:56698335A>T ENST00000260129.5 + 3 701 c.224A>T c.(223-225)cAt>cTt p.H75L NM_024831.6 NP_079107.6 Q96RS0 TGS1_HUMAN trimethylguanosine synthase 1 75 cellular lipid metabolic process|ncRNA metabolic process|regulation of transcription, DNA-dependent|RNA capping|spliceosomal snRNP assembly|transcription, DNA-dependent Cajal body|cytosol RNA trimethylguanosine synthase activity p.H75L(1) breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(10)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 29 all_lung(136;0.119)|all_epithelial(80;0.125)|Lung NSC(129;0.147) Epithelial(17;0.00027)|all cancers(17;0.00251) GCAGAATCACATGACAGCAAA 0.423000 31 55 0 0 0.144211 0 0 TCTN1 79600 broad.mit.edu 37 12 111064234 111064234 + Missense_Mutation SNP C C G TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr12:111064234C>G ENST00000551590.1 + 3 565 c.409C>G c.(409-411)Caa>Gaa p.Q137E TCTN1_ENST00000397659.4_Missense_Mutation_p.Q137E|TCTN1_ENST00000397655.3_Missense_Mutation_p.Q137E|TCTN1_ENST00000550703.2_Missense_Mutation_p.Q137E|TCTN1_ENST00000551555.2_3'UTR|TCTN1_ENST00000377654.3_5'UTR|TCTN1_ENST00000471804.2_Missense_Mutation_p.Q137E Q2MV58 TECT1_HUMAN tectonic family member 1 137 multicellular organismal development extracellular region p.Q137E(1) NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(9)|urinary_tract(1) 15 AAACCCACCTCAAAGAGTATT 0.313000 8 41 0 0 0.038147 0 0 CYP26A1 1592 broad.mit.edu 37 10 94836385 94836385 + Missense_Mutation SNP G G C TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr10:94836385G>C ENST00000371531.1 + 6 1255 c.877G>C c.(877-879)Gag>Cag p.E293Q CYP26A1_ENST00000394139.1_Missense_Mutation_p.E293Q|CYP26A1_ENST00000224356.4_Missense_Mutation_p.E362Q NM_057157.2 NP_476498.1 O43174 CP26A_HUMAN cytochrome P450, family 26, subfamily A, polypeptide 1 362 negative regulation of retinoic acid receptor signaling pathway|retinoic acid catabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome electron carrier activity|heme binding|oxygen binding|retinoic acid 4-hydroxylase activity|retinoic acid binding p.E293Q(1) breast(1)|endometrium(1)|large_intestine(4)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 16 Colorectal(252;0.122) TGTTATTAAGGAGACCCTTCG 0.388000 22 77 0 0 0.076483 0 0 GPR155 151556 broad.mit.edu 37 2 175311382 175311382 + Missense_Mutation SNP C C T rs111563303 TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr2:175311382C>T ENST00000392552.2 - 12 2208 c.1970G>A c.(1969-1971)cGa>cAa p.R657Q GPR155_ENST00000295500.4_Missense_Mutation_p.R657Q|GPR155_ENST00000392551.2_Missense_Mutation_p.R657Q NM_001267051.1|NM_152529.6 NP_001253980.1|NP_689742.4 Q7Z3F1 GP155_HUMAN G protein-coupled receptor 155 657 intracellular signal transduction|transmembrane transport integral to membrane p.R657Q(1) breast(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(2) 26 CAACACATGTCGGGTCAGTTG 0.423000 8 125 0 0 0.058154 0 0 CNST 163882 broad.mit.edu 37 1 246829073 246829073 + Missense_Mutation SNP G G A TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr1:246829073G>A ENST00000366513.4 + 11 2313 c.2044G>A c.(2044-2046)Gga>Aga p.G682R NM_152609.2 NP_689822.2 Q6PJW8 CNST_HUMAN consortin, connexin sorting protein 682 positive regulation of Golgi to plasma membrane protein transport integral to membrane|plasma membrane|protein complex|trans-Golgi network|transport vesicle connexin binding p.G682R(1) breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|prostate(1)|urinary_tract(2) 28 CAGTGTTGGAGGAACTGCATT 0.443000 5 100 0 0 0.014758 0 0 DAB1 1600 broad.mit.edu 37 1 57480856 57480856 + Missense_Mutation SNP C C T TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr1:57480856C>T ENST00000371236.2 - 12 1407 c.1144G>A c.(1144-1146)Ggt>Agt p.G382S DAB1_ENST00000485760.1_5'UTR|DAB1_ENST00000439789.2_Missense_Mutation_p.G296S|DAB1_ENST00000420954.2_Missense_Mutation_p.G380S|DAB1_ENST00000371234.4_Missense_Mutation_p.G382S|DAB1_ENST00000414851.2_Missense_Mutation_p.G364S|DAB1_ENST00000371231.1_Missense_Mutation_p.G415S O75553 DAB1_HUMAN Dab, reelin signal transducer, homolog 1 (Drosophila) 415 cell differentiation|nervous system development p.G382S(1) central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(5) 64 GTGAGGGGACCTTGGAACATG 0.602000 13 55 0 0 0.105934 0 0 POGZ 23126 broad.mit.edu 37 1 151378787 151378787 + Silent SNP G G A TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr1:151378787G>A ENST00000271715.2 - 19 3038 c.2724C>T c.(2722-2724)ctC>ctT p.L908L POGZ_ENST00000368863.2_Silent_p.L813L|POGZ_ENST00000361398.3_Silent_p.L855L|POGZ_ENST00000491586.1_Silent_p.L864L|POGZ_ENST00000540984.1_Silent_p.L270L|POGZ_ENST00000409503.1_Silent_p.L899L|POGZ_ENST00000531094.1_Silent_p.L846L|POGZ_ENST00000392723.1_Silent_p.L855L NM_001194937.1|NM_015100.3 NP_001181866.1|NP_055915.2 Q7Z3K3 POGZ_HUMAN pogo transposable element with ZNF domain 908 Pro-rich. cell division|kinetochore assembly|mitotic sister chromatid cohesion|regulation of transcription, DNA-dependent cytoplasm|nuclear chromatin DNA binding|protein binding|zinc ion binding p.L908L(1)|p.L864L(1) NS(1)|breast(1)|endometrium(10)|kidney(3)|large_intestine(10)|liver(2)|lung(11)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1) 47 Lung SC(34;0.00471)|Ovarian(49;0.00672)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185) UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181) CTGGTGATGGGAGTGCTGGGG 0.597000 15 61 0 0 0.132662 0 0 EPS8 2059 broad.mit.edu 37 12 15803941 15803941 + Splice_Site SNP C C T TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr12:15803941C>T ENST00000281172.5 - 14 1687 c.e14-1 EPS8_ENST00000540613.1_Splice_Site|EPS8_ENST00000542903.1_Splice_Site|EPS8_ENST00000543612.1_Splice_Site|EPS8_ENST00000543523.1_Splice_Site NM_004447.5 NP_004438.3 Q12929 EPS8_HUMAN epidermal growth factor receptor pathway substrate 8 cell proliferation|epidermal growth factor receptor signaling pathway SH3/SH2 adaptor activity p.?(1) NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 33 all_epithelial(100;1.87e-05)|Breast(259;0.000286)|Hepatocellular(102;0.244) BRCA - Breast invasive adenocarcinoma(232;4.29e-05)|GBM - Glioblastoma multiforme(207;0.0264) CCACTCTGCTCTGCAGGAGGG 0.448000 12 72 0 0 0.093190 0 0 TRBV6-7 28600 broad.mit.edu 37 7 142143823 142143823 + RNA SNP G G T TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr7:142143823G>T ENST00000390373.2 - 0 172 CCCCTTGCCTGGGTCTTGTCG 0.488000 29 78 1.80694e-10 1.98483e-10 0.144211 1 0 TBX19 9095 broad.mit.edu 37 1 168278089 168278089 + Silent SNP C C G TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr1:168278089C>G ENST00000367821.3 + 7 1077 c.1026C>G c.(1024-1026)acC>acG p.T342T TBX19_ENST00000465440.1_3'UTR NM_005149.2 NP_005140.1 O60806 TBX19_HUMAN T-box 19 342 anatomical structure morphogenesis nucleus DNA binding p.T342T(1) NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|liver(1)|lung(11)|prostate(2)|skin(2)|urinary_tract(1) 34 all_hematologic(923;0.215) TACCCCACACCAACGGACCAA 0.507000 11 156 0 0 0.093190 0 0 CEP78 84131 broad.mit.edu 37 9 80881397 80881397 + Missense_Mutation SNP C C G TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr9:80881397C>G ENST00000424347.2 + 15 2126 c.1837C>G c.(1837-1839)Ctc>Gtc p.L613V CEP78_ENST00000415759.2_Missense_Mutation_p.L614V|CEP78_ENST00000277082.5_Missense_Mutation_p.L613V|CEP78_ENST00000376598.2_Missense_Mutation_p.L629V|CEP78_ENST00000376597.4_Missense_Mutation_p.L630V Q5JTW2 CEP78_HUMAN centrosomal protein 78kDa 613 G2/M transition of mitotic cell cycle centrosome|cytosol p.L613V(1)|p.L630V(1) breast(1)|cervix(1)|endometrium(5)|large_intestine(7)|lung(4)|ovary(1)|stomach(1)|urinary_tract(1) 21 TCCTTTGCCTCTCGACTCCTT 0.428000 8 62 0 0 0.047766 0 0 FHOD1 29109 broad.mit.edu 37 16 67264128 67264128 + Missense_Mutation SNP C C G TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr16:67264128C>G ENST00000258201.4 - 20 3302 c.3055G>C c.(3055-3057)Gag>Cag p.E1019Q NM_013241.2 NP_037373.2 Q9Y613 FHOD1_HUMAN formin homology 2 domain containing 1 1019 actin cytoskeleton organization cytoplasm|cytoskeleton|nucleus actin binding p.E1019Q(1) breast(4)|endometrium(3)|kidney(3)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 34 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.000691)|Epithelial(162;0.00462)|all cancers(182;0.0434) GAGAACTTCTCTGTCTGGAGA 0.592000 6 74 0 0 0.029380 0 0 APPBP2 10513 broad.mit.edu 37 17 58531675 58531675 + Missense_Mutation SNP C C T TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr17:58531675C>T ENST00000083182.3 - 11 1613 c.1326G>A c.(1324-1326)atG>atA p.M442I NM_001282476.1|NM_006380.2 NP_001269405.1|NP_006371.2 Q92624 APBP2_HUMAN amyloid beta precursor protein (cytoplasmic tail) binding protein 2 442 intracellular protein transport cytoplasmic vesicle membrane|microtubule|microtubule associated complex|nucleus microtubule motor activity|protein binding p.M442I(1) breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(17)|pancreas(1)|urinary_tract(1) 25 all_neural(34;0.0878)|Medulloblastoma(34;0.0922) Epithelial(12;3.67e-13)|all cancers(12;1.44e-11)|Colorectal(3;0.01) TAAATTTTCTCATTGACTGAT 0.294000 5 139 0 0 0.021553 0 0 RNPEP 6051 broad.mit.edu 37 1 201972454 201972454 + Missense_Mutation SNP G G A TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr1:201972454G>A ENST00000295640.4 + 9 1559 c.1516G>A c.(1516-1518)Gaa>Aaa p.E506K RNPEP_ENST00000471105.1_3'UTR|RP11-465N4.4_ENST00000419190.1_RNA|RNPEP_ENST00000367286.3_Missense_Mutation_p.E467K NM_020216.3 NP_064601.3 Q9H4A4 AMPB_HUMAN arginyl aminopeptidase (aminopeptidase B) 506 leukotriene biosynthetic process epoxide hydrolase activity|zinc ion binding p.E506K(1) breast(1)|endometrium(4)|large_intestine(4)|lung(6)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 KIRC - Kidney renal clear cell carcinoma(1967;3.23e-08)|Colorectal(1306;0.005) GAAGCCTGCTGAAGAGCTAGC 0.582000 14 16 0 0 0.119110 0 0 KDM2A 22992 broad.mit.edu 37 11 67017821 67017821 + Missense_Mutation SNP C C T TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr11:67017821C>T ENST00000529006.2 + 17 2766 c.2320C>T c.(2320-2322)Cgg>Tgg p.R774W KDM2A_ENST00000526258.1_3'UTR|KDM2A_ENST00000530342.1_Missense_Mutation_p.R335W|KDM2A_ENST00000308783.5_Missense_Mutation_p.R232W|KDM2A_ENST00000398645.2_Intron NM_012308.2 NP_036440.1 Q9Y2K7 KDM2A_HUMAN lysine (K)-specific demethylase 2A 774 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleoplasm DNA binding|histone demethylase activity (H3-K36 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding p.R774W(1) NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(15)|ovary(5)|skin(1)|urinary_tract(2) 36 CACCATGGTACGGGAAAAGGA 0.617000 7 24 0 0 0.029380 0 0 C1orf51 148523 broad.mit.edu 37 1 150256881 150256881 + Missense_Mutation SNP G G A TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr1:150256881G>A ENST00000290363.5 + 3 937 c.488G>A c.(487-489)cGt>cAt p.R163H C1orf51_ENST00000469255.1_3'UTR|C1orf51_ENST00000369095.1_Missense_Mutation_p.R163H|C1orf51_ENST00000369094.1_Missense_Mutation_p.R75H NM_144697.2 NP_653298.1 Q8N365 CA051_HUMAN chromosome 1 open reading frame 51 163 p.R163H(1) endometrium(3)|large_intestine(2)|lung(3)|urinary_tract(2) 10 Lung NSC(24;7.29e-29)|Breast(34;0.00211)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171) LUSC - Lung squamous cell carcinoma(543;0.171) AGGATCCAGCGTATTGTAGGT 0.468000 5 255 0 0 0.014758 0 0 ZNF780A 284323 broad.mit.edu 37 19 40582009 40582009 + Missense_Mutation SNP C C G TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr19:40582009C>G ENST00000450241.2 - 6 549 c.238G>C c.(238-240)Gag>Cag p.E80Q ZNF780A_ENST00000414720.2_Intron|ZNF780A_ENST00000340963.5_Missense_Mutation_p.E114Q|ZNF780A_ENST00000594395.1_Missense_Mutation_p.E115Q|AC005614.5_ENST00000595508.1_RNA|ZNF780A_ENST00000595687.2_Missense_Mutation_p.E114Q|ZNF780A_ENST00000455521.1_Missense_Mutation_p.E115Q O75290 Z780A_HUMAN zinc finger protein 780A 114 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.E115Q(1)|p.E80Q(1) breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|upper_aerodigestive_tract(3)|urinary_tract(1) 31 all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925) TAAAAGGCCTCAATGCCAAGA 0.328000 11 245 0 0 0.080935 0 0 DAB1 1600 broad.mit.edu 37 1 57481004 57481004 + Silent SNP C C A TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr1:57481004C>A ENST00000371236.2 - 12 1259 c.996G>T c.(994-996)gtG>gtT p.V332V DAB1_ENST00000485760.1_5'UTR|DAB1_ENST00000439789.2_Silent_p.V246V|DAB1_ENST00000420954.2_Silent_p.V330V|DAB1_ENST00000371234.4_Silent_p.V332V|DAB1_ENST00000414851.2_Silent_p.V314V|DAB1_ENST00000371231.1_Silent_p.V365V O75553 DAB1_HUMAN Dab, reelin signal transducer, homolog 1 (Drosophila) 365 cell differentiation|nervous system development p.V332V(1) central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(5) 64 CCCCCGGCATCACCTGAGCGA 0.667000 8 46 0.00307968 0.00315407 0.038147 1 0 HAPLN2 60484 broad.mit.edu 37 1 156593922 156593922 + Missense_Mutation SNP G G A TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr1:156593922G>A ENST00000255039.1 + 4 816 c.409G>A c.(409-411)Gag>Aag p.E137K HAPLN2_ENST00000494218.1_3'UTR NM_021817.2 NP_068589.1 Q9GZV7 HPLN2_HUMAN hyaluronan and proteoglycan link protein 2 137 Ig-like V-type. cell adhesion proteinaceous extracellular matrix hyaluronic acid binding p.E137K(1) NS(1)|endometrium(2)|large_intestine(1)|lung(1)|skin(1)|urinary_tract(1) 7 all_hematologic(923;0.088)|Hepatocellular(266;0.158) CATCGAGGACGAGAGCGTGGC 0.697000 4 26 0 0 0.009096 0 0 DIS3L 115752 broad.mit.edu 37 15 66621672 66621672 + Missense_Mutation SNP A A G TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr15:66621672A>G ENST00000319194.5 + 14 2482 c.2221A>G c.(2221-2223)Aag>Gag p.K741E RP11-352G18.2_ENST00000565993.1_RNA|DIS3L_ENST00000568874.1_3'UTR|DIS3L_ENST00000319212.4_Missense_Mutation_p.K824E NM_133375.3 NP_588616.1 Q8TF46 DI3L1_HUMAN DIS3 mitotic control homolog (S. cerevisiae)-like 824 rRNA catabolic process cytoplasm|exosome (RNase complex) exonuclease activity|protein binding|ribonuclease activity|RNA binding p.K741E(1)|p.K824E(1) breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 33 AATGGAAATTAAGGGAAATCT 0.333000 7 64 0 0 0.029380 0 0 RNF157 114804 broad.mit.edu 37 17 74152378 74152378 + Missense_Mutation SNP C C T TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr17:74152378C>T ENST00000269391.6 - 14 1570 c.1438G>A c.(1438-1440)Gag>Aag p.E480K RNF157_ENST00000319945.6_Missense_Mutation_p.E480K NM_052916.2 NP_443148.1 Q96PX1 RN157_HUMAN ring finger protein 157 480 Ser-rich. zinc ion binding p.E1083K(1) breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(3)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(2)|urinary_tract(1) 25 LUSC - Lung squamous cell carcinoma(166;0.187) GTGAGATTCTCACTTTCTGGA 0.562000 10 60 0 0 0.080935 0 0 ZSCAN16 80345 broad.mit.edu 37 6 28093491 28093491 + Silent SNP G G C TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr6:28093491G>C ENST00000340487.4 + 2 419 c.270G>C c.(268-270)ctG>ctC p.L90L ZSCAN16-AS1_ENST00000600652.1_RNA|ZSCAN16-AS1_ENST00000602810.1_RNA NM_025231.1 NP_079507.1 Q9H4T2 ZSC16_HUMAN zinc finger and SCAN domain containing 16 90 SCAN box. viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.L90L(1) large_intestine(5)|liver(1)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 10 AACAGTTCCTGAGCATTCTTC 0.552000 8 91 0 0 0.038147 0 0 KCNAB1 7881 broad.mit.edu 37 3 156232888 156232888 + Splice_Site SNP G G T TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr3:156232888G>T ENST00000302490.8 + 10 1561 c.e10-1 KCNAB1_ENST00000389636.5_Splice_Site|KCNAB1_ENST00000490337.1_Splice_Site|KCNAB1_ENST00000389634.5_Splice_Site|KCNAB1_ENST00000471742.1_Splice_Site|KCNAB1_ENST00000497291.1_Splice_Site NM_172159.3 NP_751891.1 Q14722 KCAB1_HUMAN potassium voltage-gated channel, shaker-related subfamily, beta member 1 cytoplasm|integral to membrane oxidoreductase activity|potassium channel regulator activity|voltage-gated potassium channel activity p.?(3) breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 28 LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465) TTCCTCCCTAGGAAGCCTATT 0.413000 11 127 1.33987e-11 1.48719e-11 0.069234 1 0 ZNF236 7776 broad.mit.edu 37 18 74593443 74593443 + Missense_Mutation SNP A A G TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr18:74593443A>G ENST00000253159.8 + 9 1584 c.1386A>G c.(1384-1386)atA>atG p.I462M ZNF236_ENST00000320610.9_Missense_Mutation_p.I464M NM_007345.3 NP_031371.3 Q9UL36 ZN236_HUMAN zinc finger protein 236 462 cellular response to glucose stimulus nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.I462M(2) NS(1)|breast(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(43)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 94 Prostate(75;0.0405)|Esophageal squamous(42;0.129)|Melanoma(33;0.132) OV - Ovarian serous cystadenocarcinoma(15;4.36e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0686) AAAAAATGATAAAGAAGAAGT 0.383000 20 16 0 0 0.049695 0 0 BICD1 636 broad.mit.edu 37 12 32480490 32480490 + Silent SNP G G A TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr12:32480490G>A ENST00000548411.1 + 5 1282 c.1101G>A c.(1099-1101)cgG>cgA p.R367R BICD1_ENST00000281474.5_Silent_p.R367R NM_001003398.1 NP_001003398.1 Q96G01 BICD1_HUMAN bicaudal D homolog 1 (Drosophila) 367 anatomical structure morphogenesis|intracellular mRNA localization|microtubule anchoring at microtubule organizing center|minus-end-directed organelle transport along microtubule|positive regulation of receptor-mediated endocytosis|protein localization to organelle|RNA processing|stress granule assembly|viral reproduction cytoplasmic vesicle|cytoskeleton|cytosol|host cell viral assembly compartment|membrane|perinuclear region of cytoplasm|trans-Golgi network cytoskeletal adaptor activity|dynactin binding|dynein binding|proteinase activated receptor binding|Rab GTPase binding|structural constituent of cytoskeleton p.R367R(1) NS(1)|breast(2)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 46 all_cancers(9;5.13e-11)|all_epithelial(9;2.71e-11)|all_lung(12;6.66e-10)|Acute lymphoblastic leukemia(23;0.0122)|Lung SC(12;0.0213)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204) OV - Ovarian serous cystadenocarcinoma(6;0.0201) AGCATGAGCGGGTGCACCGGC 0.612000 8 61 0 0 0.038147 0 0 EFCAB1 79645 broad.mit.edu 37 8 49642408 49642408 + Missense_Mutation SNP C C G rs145734570 byFrequency TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr8:49642408C>G ENST00000433756.1 - 3 345 c.186G>C c.(184-186)ttG>ttC p.L62F EFCAB1_ENST00000262103.3_Missense_Mutation_p.L114F|EFCAB1_ENST00000521002.1_Intron|EFCAB1_ENST00000523092.1_Missense_Mutation_p.L62F NM_001142857.1 NP_001136329.1 Q9HAE3 EFCB1_HUMAN EF-hand calcium binding domain 1 114 calcium ion binding p.L114F(1) endometrium(1)|large_intestine(3)|lung(6)|pancreas(1)|prostate(1)|urinary_tract(2) 14 all_epithelial(80;0.0134)|Lung NSC(129;0.0207)|all_lung(136;0.0464) CGTCACCATTCAAATCAAACA 0.348000 5 56 0 0 0.014758 0 0 RASGRP2 10235 broad.mit.edu 37 11 64502637 64502637 + Silent SNP G G A TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr11:64502637G>A ENST00000377494.1 - 11 2281 c.1359C>T c.(1357-1359)atC>atT p.I453I RASGRP2_ENST00000354024.3_Silent_p.I453I|RASGRP2_ENST00000377497.3_Silent_p.I453I|RASGRP2_ENST00000394432.3_Silent_p.I453I Q7LDG7 GRP2_HUMAN RAS guanyl releasing protein 2 (calcium and DAG-regulated) 453 EF-hand 1. platelet activation|Ras protein signal transduction|regulation of cell growth|regulation of small GTPase mediated signal transduction cell junction|cytosol|ruffle membrane|synapse|synaptosome calcium ion binding|diacylglycerol binding|guanyl-nucleotide exchange factor activity p.I515I(1) breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 24 TCCCACGGATGATCTGGAATT 0.602000 15 47 0 0 0.132662 0 0 TMC3 342125 broad.mit.edu 37 15 81628953 81628953 + Missense_Mutation SNP C C G TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr15:81628953C>G ENST00000558726.1 - 20 2338 c.2203G>C c.(2203-2205)Gaa>Caa p.E735Q RP11-761I4.3_ENST00000560851.1_RNA|RP11-761I4.3_ENST00000560973.1_RNA|TMC3_ENST00000359440.5_Missense_Mutation_p.E734Q|RP11-761I4.3_ENST00000559781.1_RNA Q7Z5M5 TMC3_HUMAN transmembrane channel-like 3 734 A -> AA (in Ref. 1; AAP78778). integral to membrane p.E734Q(1) autonomic_ganglia(2)|breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 34 TACTTACCTTCTACCATCTGG 0.413000 7 159 0 0 0.029380 0 0 CNST 163882 broad.mit.edu 37 1 246754982 246754982 + Missense_Mutation SNP G G C TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr1:246754982G>C ENST00000366513.4 + 2 387 c.118G>C c.(118-120)Gaa>Caa p.E40Q CNST_ENST00000366512.3_Missense_Mutation_p.E40Q|CNST_ENST00000483271.1_3'UTR NM_152609.2 NP_689822.2 Q6PJW8 CNST_HUMAN consortin, connexin sorting protein 40 positive regulation of Golgi to plasma membrane protein transport integral to membrane|plasma membrane|protein complex|trans-Golgi network|transport vesicle connexin binding p.E40Q(1) breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|prostate(1)|urinary_tract(2) 28 AGATGAAAATGAAAATCAGCT 0.478000 7 77 0 0 0.047766 0 0 SYNE1 23345 broad.mit.edu 37 6 152771879 152771879 + Silent SNP G G A TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr6:152771879G>A ENST00000367255.5 - 27 3877 c.3276C>T c.(3274-3276)gaC>gaT p.D1092D SYNE1_ENST00000341594.5_Silent_p.D1158D|SYNE1_ENST00000265368.4_Silent_p.D1092D|SYNE1_ENST00000423061.1_Silent_p.D1099D|SYNE1_ENST00000367248.3_Silent_p.D1082D|SYNE1_ENST00000413186.2_Silent_p.D1092D|SYNE1_ENST00000367253.4_Silent_p.D1092D|SYNE1_ENST00000448038.1_Silent_p.D1099D NM_182961.3 NP_892006.3 Q8NF91 SYNE1_HUMAN spectrin repeat containing, nuclear envelope 1 1092 cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex actin binding|lamin binding p.D1092D(2)|p.D1099D(1) NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19) 524 Ovarian(120;0.0955) BRCA - Breast invasive adenocarcinoma(37;0.243) OV - Ovarian serous cystadenocarcinoma(155;2.24e-10) CCCTTACTGGGTCCCGCACTG 0.493000 HNSCC(10;0.0054) 8 263 0 0 0.058154 0 0 TRO 7216 broad.mit.edu 37 X 54949137 54949137 + Missense_Mutation SNP A A G TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chrX:54949137A>G ENST00000173898.7 + 3 284 c.172A>G c.(172-174)Atg>Gtg p.M58V TRO_ENST00000420798.2_Intron|TRO_ENST00000484031.1_Intron|TRO_ENST00000375041.2_Intron|TRO_ENST00000399736.1_Intron|TRO_ENST00000319167.8_Missense_Mutation_p.M58V|TRO_ENST00000375022.4_Missense_Mutation_p.M58V NM_001039705.2 NP_001034794.1 Q12816 TROP_HUMAN trophinin 58 embryo implantation|homophilic cell adhesion integral to plasma membrane p.M58V(2) breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|skin(2)|urinary_tract(1) 37 CTCCCTGGCCATGGACCCACC 0.557000 17 22 0 0 0.033300 0 0 TIE1 7075 broad.mit.edu 37 1 43782984 43782984 + Missense_Mutation SNP G G C TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr1:43782984G>C ENST00000372476.3 + 15 2603 c.2524G>C c.(2524-2526)Gag>Cag p.E842Q TIE1_ENST00000473014.1_3'UTR|TIE1_ENST00000433781.2_Missense_Mutation_p.E487Q NM_001253357.1|NM_005424.4 NP_001240286.1|NP_005415.1 P35590 TIE1_HUMAN tyrosine kinase with immunoglobulin-like and EGF-like domains 1 842 Protein kinase. mesoderm development integral to plasma membrane ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity p.E842K(1)|p.E842Q(1) breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(8)|lung(28)|ovary(3)|prostate(2)|salivary_gland(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4) 70 Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0505) CATCACCTTTGAGGACCTCAT 0.587000 14 162 0 0 0.033300 0 0 HECTD4 283450 broad.mit.edu 37 12 112666449 112666449 + Splice_Site SNP A A G TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr12:112666449A>G ENST00000550722.1 - 42 6642 c.e42+1 HECTD4_ENST00000430131.2_Splice_Site|HECTD4_ENST00000377560.5_Splice_Site NM_001109662.3 NP_001103132.3 HECT domain containing E3 ubiquitin protein ligase 4 p.?(2) AAATCACCTTACCTCTGATCT 0.403000 9 83 0 0 0.047766 0 0 SELENBP1 8991 broad.mit.edu 37 1 151338296 151338296 + Silent SNP C C T TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr1:151338296C>T ENST00000435071.1 - 8 1140 c.678G>A c.(676-678)gtG>gtA p.V226V SELENBP1_ENST00000447402.3_Silent_p.V228V|SELENBP1_ENST00000368868.5_Silent_p.V290V|SELENBP1_ENST00000426705.2_Silent_p.V332V Q13228 SBP1_HUMAN selenium binding protein 1 290 protein transport cytosol|membrane|nucleolus protein binding|selenium binding p.V290V(1) breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(11)|prostate(1)|urinary_tract(1) 20 Lung SC(34;0.00471)|Ovarian(49;0.00871)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185) UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181) GCACCTGGATCACCTTCTCCA 0.552000 16 219 0 0 0.146539 0 0 AK8 158067 broad.mit.edu 37 9 135601228 135601228 + Silent SNP G G C TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr9:135601228G>C ENST00000298545.3 - 13 1808 c.1287C>G c.(1285-1287)gtC>gtG p.V429V AK8_ENST00000477396.1_5'UTR NM_152572.2 NP_689785.1 Q96MA6 KAD8_HUMAN adenylate kinase 8 429 Adenylate kinase. cytosol adenylate kinase activity|ATP binding|cytidylate kinase activity p.V429V(2) NS(1)|kidney(2)|large_intestine(4)|lung(11)|pancreas(2)|prostate(1)|urinary_tract(2) 23 TTTTCAGCTTGACCTGCTCTT 0.552000 3 10 0 0 0.115264 0 0 SPATA31D1 389763 broad.mit.edu 37 9 84608089 84608089 + Missense_Mutation SNP A A G TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr9:84608089A>G ENST00000344803.2 + 4 2751 c.2704A>G c.(2704-2706)Atg>Gtg p.M902V NM_001001670.2 NP_001001670.1 SPATA31 subfamily D, member 1 p.M902V(2) CAAACAAAAGATGTTGGAAGC 0.433000 4 63 0 0 0.014758 0 0 RLF 6018 broad.mit.edu 37 1 40697236 40697236 + Missense_Mutation SNP C C G TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr1:40697236C>G ENST00000372771.4 + 7 1022 c.995C>G c.(994-996)tCt>tGt p.S332C NM_012421.3 NP_036553.2 Q13129 RLF_HUMAN rearranged L-myc fusion 332 chromosome organization|DNA integration|DNA mediated transformation|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent DNA binding|protein binding|zinc ion binding p.S332C(1) NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(18)|lung(18)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(4)|urinary_tract(2) 68 Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;5.87e-19)|Epithelial(16;7.02e-16)|all cancers(16;1.69e-14)|Lung(16;0.0427)|LUSC - Lung squamous cell carcinoma(16;0.0461) ATTGACCCTTCTTTAGATACT 0.358000 19 151 0 0 0.055883 0 0 PAPPA 5069 broad.mit.edu 37 9 118949701 118949701 + Missense_Mutation SNP C C G TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr9:118949701C>G ENST00000328252.3 + 2 1053 c.684C>G c.(682-684)ttC>ttG p.F228L NM_002581.3 NP_002572.2 Q13219 PAPP1_HUMAN pregnancy-associated plasma protein A, pappalysin 1 228 cell differentiation|female pregnancy cytoplasm|extracellular region|membrane metalloendopeptidase activity|zinc ion binding p.F228L(1) NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1) 98 GTGGCATATTCAGCCCACTGA 0.547000 16 60 0 0 0.132662 0 0 USH2A 7399 broad.mit.edu 37 1 215812566 215812566 + Missense_Mutation SNP C C G TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr1:215812566C>G ENST00000366943.2 - 69 15369 c.14983G>C c.(14983-14985)Gtc>Ctc p.V4995L USH2A_ENST00000307340.3_Missense_Mutation_p.V4995L O75445 USH2A_HUMAN Usher syndrome 2A (autosomal recessive, mild) 4995 Fibronectin type-III 35. maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound basement membrane|cytoplasm|integral to membrane|stereocilium membrane collagen binding p.V4995L(1) NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3) 527 OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875) GTGCAGATGACCTGGAAAAAG 0.403000 HNSCC(13;0.011) 6 144 0 0 0.021553 0 0 SLC9A3 6550 broad.mit.edu 37 5 476396 476396 + Missense_Mutation SNP G G T TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr5:476396G>T ENST00000264938.3 - 13 1997 c.1988C>A c.(1987-1989)tCc>tAc p.S663Y CTD-2228K2.7_ENST00000607286.1_RNA|CTD-2228K2.7_ENST00000606319.1_RNA|SLC9A3_ENST00000514375.1_Missense_Mutation_p.S654Y NM_004174.2 NP_004165.2 P48764 SL9A3_HUMAN solute carrier family 9, subfamily A (NHE3, cation proton antiporter 3), member 3 663 Interaction with PDZD3 (By similarity). cell surface|integral to membrane sodium:hydrogen antiporter activity p.S663Y(1) NS(2)|biliary_tract(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(2)|lung(16)|prostate(3)|skin(2)|urinary_tract(1) 37 Epithelial(17;0.000529)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|all cancers(22;0.00186)|Lung(60;0.0863) CGACTTGAAGGACTCCAGGCG 0.602000 9 240 2.17888e-05 2.28674e-05 0.058154 1 0 MCF2L2 23101 broad.mit.edu 37 3 183013209 183013209 + Missense_Mutation SNP C C G TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr3:183013209C>G ENST00000328913.3 - 13 1851 c.1554G>C c.(1552-1554)aaG>aaC p.K518N MCF2L2_ENST00000473233.1_Missense_Mutation_p.K518N|MCF2L2_ENST00000447025.2_Missense_Mutation_p.K518N|B3GNT5_ENST00000462559.1_Intron|MCF2L2_ENST00000414362.2_Missense_Mutation_p.K518N NM_015078.2 NP_055893 Q86YR7 MF2L2_HUMAN MCF.2 cell line derived transforming sequence-like 2 518 regulation of Rho protein signal transduction intracellular Rho guanyl-nucleotide exchange factor activity p.K518N(1) breast(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(25)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 72 all_cancers(143;1.26e-12)|Ovarian(172;0.0355) all cancers(12;3.35e-44)|Epithelial(37;6.48e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;6.75e-21) TCACTTGCCTCTTGTGAAATA 0.458000 4 99 0 0 0.014758 0 0 NAE1 8883 broad.mit.edu 37 16 66847711 66847711 + Silent SNP G G C TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr16:66847711G>C ENST00000379463.2 - 13 1053 c.861C>G c.(859-861)cgC>cgG p.R287R NAE1_ENST00000359087.4_Silent_p.R296R|NAE1_ENST00000394074.2_Silent_p.R204R|NAE1_ENST00000290810.3_Silent_p.R293R NM_001018159.1 NP_001018169.1 Q13564 ULA1_HUMAN NEDD8 activating enzyme E1 subunit 1 293 apoptosis|cell cycle|DNA replication|mitotic cell cycle DNA replication checkpoint|protein neddylation|signal transduction cytoplasm|insoluble fraction|plasma membrane catalytic activity|protein heterodimerization activity p.R293R(1) breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 18 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0914)|Epithelial(162;0.214) Adenosine triphosphate(DB00171) TATTTATGCAGCGATCATCAT 0.308000 11 136 0 0 0.080935 0 0 MYH4 4622 broad.mit.edu 37 17 10351974 10351974 + Missense_Mutation SNP G G C TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr17:10351974G>C ENST00000255381.2 - 32 4602 c.4492C>G c.(4492-4494)Cat>Gat p.H1498D RP11-799N11.1_ENST00000581304.1_RNA|RP11-799N11.1_ENST00000399342.2_RNA|CTC-297N7.11_ENST00000587182.2_RNA NM_017533.2 NP_060003.2 Q9Y623 MYH4_HUMAN myosin, heavy chain 4, skeletal muscle 1498 muscle filament sliding muscle myosin complex|myosin filament|sarcomere actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle p.H1498D(1) NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 149 GTTTCAAGATGATCCAGGGAT 0.428000 6 150 0 0 0.058154 0 0 CYP2W1 54905 broad.mit.edu 37 7 1024674 1024674 + Silent SNP G G A TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr7:1024674G>A ENST00000340150.6 + 3 280 c.258G>A c.(256-258)ccG>ccA p.P86P CYP2W1_ENST00000308919.7_Silent_p.P142P Q8TAV3 CP2W1_HUMAN cytochrome P450, family 2, subfamily W, polypeptide 1 142 xenobiotic metabolic process endoplasmic reticulum membrane electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen p.P142P(1) breast(1)|large_intestine(1)|lung(4)|urinary_tract(1) 7 Ovarian(82;0.0112) UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;1.74e-15) GCCGGGAGCCGGTGGCTGACA 0.677000 14 16 0 0 0.043863 0 0 WFS1 7466 broad.mit.edu 37 4 6303952 6303952 + Missense_Mutation SNP C C A TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr4:6303952C>A ENST00000226760.1 + 8 2600 c.2430C>A c.(2428-2430)ttC>ttA p.F810L WFS1_ENST00000503569.1_Missense_Mutation_p.F810L NM_001145853.1|NM_006005.3 NP_001139325.1|NP_005996.2 O76024 WFS1_HUMAN Wolfram syndrome 1 (wolframin) 810 endoplasmic reticulum calcium ion homeostasis|endoplasmic reticulum unfolded protein response|ER overload response|ER-associated protein catabolic process|glucose homeostasis|kidney development|negative regulation of neuron apoptosis|negative regulation of sequence-specific DNA binding transcription factor activity|polyubiquitinated misfolded protein transport|positive regulation of calcium ion transport|positive regulation of growth|positive regulation of protein ubiquitination|positive regulation of proteolysis|protein stabilization|renal water homeostasis|sensory perception of sound|visual perception dendrite|integral to endoplasmic reticulum membrane activating transcription factor binding|ATPase binding|transporter activity|ubiquitin protein ligase binding p.F810L(1) central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(6)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1) 21 Colorectal(103;0.0512) GCAGCGAGTTCAAGAGCGTGC 0.662000 4 18 0.00909568 0.00920422 0.009096 1 0 GMPS 8833 broad.mit.edu 37 3 155632331 155632331 + Missense_Mutation SNP G G C TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr3:155632331G>C ENST00000496455.2 + 8 1345 c.1010G>C c.(1009-1011)aGa>aCa p.R337T GMPS_ENST00000295920.7_Missense_Mutation_p.R238T NM_003875.2 NP_003866.1 P49915 GUAA_HUMAN guanine monphosphate synthase glutamine metabolic process|purine base biosynthetic process cytosol ATP binding|GMP synthase (glutamine-hydrolyzing) activity|GMP synthase activity p.R337T(1) breast(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(12)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114) L-Glutamic Acid(DB00142)|L-Glutamine(DB00130) GAAGAGAAAAGAAAAATCATT 0.328000 T MLL AML 8 92 0 0 0.058154 0 0 CAPSL 133690 broad.mit.edu 37 5 35910144 35910144 + Missense_Mutation SNP T T A TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr5:35910144T>A ENST00000397367.2 - 4 475 c.349A>T c.(349-351)Atg>Ttg p.M117L CAPSL_ENST00000397366.1_Missense_Mutation_p.M117L|CAPSL_ENST00000514524.1_Missense_Mutation_p.M117L NM_144647.3 NP_653248.3 Q8WWF8 CAPSL_HUMAN calcyphosine-like 117 EF-hand 3. cytoplasm calcium ion binding p.M117L(2) central_nervous_system(1)|kidney(1)|large_intestine(5)|lung(10)|skin(1)|urinary_tract(1) 19 all_lung(31;0.000268) Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.167)|Colorectal(62;0.202) AAAGCTTGCATGATTACCTCT 0.373000 21 290 0 0 0.062417 0 0 CMTM2 146225 broad.mit.edu 37 16 66621981 66621981 + Missense_Mutation SNP G G C TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr16:66621981G>C ENST00000268595.2 + 4 857 c.706G>C c.(706-708)Gaa>Caa p.E236Q CMTM2_ENST00000379486.2_Missense_Mutation_p.E183Q NM_144673.2 NP_653274.1 Q8TAZ6 CKLF2_HUMAN CKLF-like MARVEL transmembrane domain containing 2 236 chemotaxis extracellular space|integral to membrane cytokine activity p.E236Q(1) endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1) 17 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.068)|Epithelial(162;0.212) CAAGCCACCAGAACCTGGCAA 0.532000 4 75 0 0 0.058154 0 0 NRIP1 8204 broad.mit.edu 37 21 16340196 16340196 + Missense_Mutation SNP C C T TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr21:16340196C>T ENST00000400202.1 - 3 1030 c.318G>A c.(316-318)atG>atA p.M106I NRIP1_ENST00000318948.4_Missense_Mutation_p.M106I|NRIP1_ENST00000400199.1_Missense_Mutation_p.M106I P48552 NRIP1_HUMAN nuclear receptor interacting protein 1 106 Repression domain 1. androgen receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent androgen receptor binding|estrogen receptor binding|glucocorticoid receptor binding|transcription coactivator activity|transcription corepressor activity p.M106I(1) cervix(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|lung(13)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4) 39 Epithelial(23;1.19e-05)|all cancers(11;4.64e-05)|COAD - Colon adenocarcinoma(22;0.000232)|Colorectal(24;0.0006)|OV - Ovarian serous cystadenocarcinoma(11;0.00418)|Lung(58;0.199)|LUSC - Lung squamous cell carcinoma(23;0.24) CGTTTAAATTCATGATAGAAT 0.468000 18 140 0 0 0.043863 0 0 KDM5A 5927 broad.mit.edu 37 12 420231 420231 + Splice_Site SNP C C G TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr12:420231C>G ENST00000399788.2 - 21 3399 c.e21-1 KDM5A_ENST00000382815.4_Splice_Site NM_001042603.1 NP_001036068.1 P29375 KDM5A_HUMAN lysine (K)-specific demethylase 5A chromatin modification|multicellular organismal development|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter cytoplasm|nucleolus DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|sequence-specific DNA binding transcription factor activity|zinc ion binding p.?(2) NS(2)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(29)|ovary(1)|prostate(5)|skin(6)|stomach(1)|urinary_tract(2) 77 TGCTGCCACTCTGAAAAACCA 0.418000 T NUP98 AML 3 36 0 0 0.115264 0 0 GPR35 2859 broad.mit.edu 37 2 241569480 241569480 + Silent SNP C C G TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr2:241569480C>G ENST00000319838.5 + 6 1053 c.111C>G c.(109-111)ctC>ctG p.L37L GPR35_ENST00000438013.2_Silent_p.L68L|GPR35_ENST00000403859.1_Silent_p.L37L|GPR35_ENST00000407714.1_Silent_p.L37L|GPR35_ENST00000430267.1_Silent_p.L37L NM_001195381.1 NP_001182310.1 Q9HC97 GPR35_HUMAN G protein-coupled receptor 35 37 integral to plasma membrane G-protein coupled receptor activity p.L37L(1) NS(2)|breast(1)|cervix(1)|endometrium(1)|lung(7)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1) 17 all_epithelial(40;7.49e-12)|Breast(86;0.000148)|Renal(207;0.00571)|Ovarian(221;0.104)|all_neural(83;0.107)|all_hematologic(139;0.182)|all_lung(227;0.186)|Melanoma(123;0.238) Epithelial(32;5.29e-32)|all cancers(36;1.38e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.13e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;5.02e-06)|Lung(119;0.00163)|Colorectal(34;0.00463)|LUSC - Lung squamous cell carcinoma(224;0.008)|COAD - Colon adenocarcinoma(134;0.031) GCCTGCTGCTCAACAGCCTGG 0.642000 5 38 0 0 0.014758 0 0 SYNPO2 171024 broad.mit.edu 37 4 119979019 119979019 + Missense_Mutation SNP C C G TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr4:119979019C>G ENST00000307142.4 + 5 3912 c.3716C>G c.(3715-3717)tCt>tGt p.S1239C SYNPO2_ENST00000448416.2_3'UTR NM_133477.2 NP_597734.2 Q9UMS6 SYNP2_HUMAN synaptopodin 2 0 nucleus|Z disc 14-3-3 protein binding|actin binding|muscle alpha-actinin binding p.S1239C(2) breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(18)|ovary(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 64 GAAACCAGGTCTGATTACTGT 0.443000 6 58 0 0 0.021553 0 0 SLC9A2 6549 broad.mit.edu 37 2 103318920 103318920 + Missense_Mutation SNP C C G TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr2:103318920C>G ENST00000233969.2 + 9 1946 c.1804C>G c.(1804-1806)Cga>Gga p.R602G NM_003048.3 NP_003039.2 Q9UBY0 SL9A2_HUMAN solute carrier family 9, subfamily A (NHE2, cation proton antiporter 2), member 2 602 integral to membrane|plasma membrane sodium:hydrogen antiporter activity p.R602G(1) breast(5)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 42 TGATGAAATTCGAGAACTCTT 0.328000 6 97 0 0 0.021553 0 0 CCDC18 343099 broad.mit.edu 37 1 93677790 93677790 + Silent SNP A A G TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr1:93677790A>G ENST00000343253.7 + 11 1969 c.1467A>G c.(1465-1467)gaA>gaG p.E489E CCDC18_ENST00000334652.5_5'UTR|CCDC18_ENST00000557479.1_Silent_p.E607E|CCDC18_ENST00000338949.4_Silent_p.E288E|CCDC18_ENST00000401026.3_Silent_p.E489E Q5T9S5 CCD18_HUMAN coiled-coil domain containing 18 489 p.E607E(1) breast(5)|endometrium(3)|kidney(1)|large_intestine(6)|lung(19)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 42 all_lung(203;0.00196)|Lung NSC(277;0.00903)|Melanoma(281;0.099)|all_neural(321;0.185)|Glioma(108;0.203) all cancers(265;0.00166)|GBM - Glioblastoma multiforme(16;0.00551)|Epithelial(280;0.0967) TAGAAACAGAACCTGTAAAGC 0.294000 34 179 0 0 0.092188 0 0 PDE9A 5152 broad.mit.edu 37 21 44179187 44179187 + Missense_Mutation SNP A A T TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr21:44179187A>T ENST00000291539.6 + 11 949 c.889A>T c.(889-891)Agg>Tgg p.R297W PDE9A_ENST00000539837.1_Missense_Mutation_p.R169W|PDE9A_ENST00000328862.6_Missense_Mutation_p.R271W|PDE9A_ENST00000349112.3_Missense_Mutation_p.R169W|PDE9A_ENST00000398227.3_Missense_Mutation_p.R137W|PDE9A_ENST00000335512.4_Missense_Mutation_p.R237W|PDE9A_ENST00000380328.2_Missense_Mutation_p.R244W|PDE9A_ENST00000398236.3_Missense_Mutation_p.R211W|PDE9A_ENST00000398232.3_Missense_Mutation_p.R230W|PDE9A_ENST00000398225.3_Missense_Mutation_p.R256W|PDE9A_ENST00000398234.3_Missense_Mutation_p.R196W|PDE9A_ENST00000470987.1_3'UTR|PDE9A_ENST00000335440.6_Missense_Mutation_p.R195W|PDE9A_ENST00000398224.3_Missense_Mutation_p.R170W|PDE9A_ENST00000398229.3_Missense_Mutation_p.R163W NM_002606.2 NP_002597.1 O76083 PDE9A_HUMAN phosphodiesterase 9A 297 Catalytic (By similarity). platelet activation|signal transduction cytosol|endoplasmic reticulum|Golgi apparatus|perinuclear region of cytoplasm|ruffle membrane 3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding|protein binding p.R297W(1) breast(1)|endometrium(4)|large_intestine(6)|lung(8)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 27 CACCCTCAGGAGGTGGCTGGT 0.587000 3 30 0 0 0.009096 0 0 FAM127B 26071 broad.mit.edu 37 X 134185976 134185976 + Missense_Mutation SNP C C T TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chrX:134185976C>T ENST00000370775.2 - 1 229 c.163G>A c.(163-165)Gag>Aag p.E55K FAM127B_ENST00000520964.1_5'UTR NM_001078172.1 NP_001071640.1 Q9BWD3 F127B_HUMAN family with sequence similarity 127, member B 55 p.E55K(1) breast(3)|endometrium(2)|large_intestine(3)|lung(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 14 Acute lymphoblastic leukemia(192;0.000127) AACGTGTTCTCGTCCACGAAC 0.597000 6 90 0 0 0.021553 0 0 CPS1 1373 broad.mit.edu 37 2 211481249 211481249 + Missense_Mutation SNP C C G TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr2:211481249C>G ENST00000233072.5 + 21 2867 c.2671C>G c.(2671-2673)Ctg>Gtg p.L891V CPS1_ENST00000451903.2_Missense_Mutation_p.L440V|CPS1_ENST00000430249.2_Missense_Mutation_p.L897V NM_001875.4 NP_001866.2 P31327 CPSM_HUMAN carbamoyl-phosphate synthase 1, mitochondrial 891 carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle mitochondrial nucleoid ATP binding|carbamoyl-phosphate synthase (ammonia) activity p.L891V(1)|p.L897V(1) breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(85)|ovary(8)|pancreas(1)|prostate(6)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2) 142 Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843) GGAAAAGACACTGAAAGGCCT 0.398000 4 107 0 0 0.014758 0 0 KIF13A 63971 broad.mit.edu 37 6 17987315 17987315 + Missense_Mutation SNP G G C TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr6:17987315G>C ENST00000378814.5 - 2 115 c.116C>G c.(115-117)cCt>cGt p.P39R KIF13A_ENST00000378826.2_Missense_Mutation_p.P39R|KIF13A_ENST00000378816.5_Missense_Mutation_p.P39R|KIF13A_ENST00000259711.6_Missense_Mutation_p.P39R|KIF13A_ENST00000378843.2_Missense_Mutation_p.P39R|KIF13A_ENST00000502704.1_Missense_Mutation_p.P39R NM_001105568.2 NP_001099038.1 Q9H1H9 KI13A_HUMAN kinesin family member 13A 39 Kinesin-motor. cargo loading into vesicle|cell cycle|cytokinesis|endosome to lysosome transport|Golgi to plasma membrane protein transport|melanosome organization|plus-end-directed vesicle transport along microtubule centrosome|endosome membrane|microtubule|midbody|trans-Golgi network membrane ATP binding|microtubule motor activity|protein binding p.P39R(2) breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 64 Breast(50;0.0107)|Ovarian(93;0.016) all_hematologic(90;0.125) all cancers(50;0.0865)|Epithelial(50;0.0974) AGAAGGAGGAGGGTGCAGGAC 0.562000 9 123 0 0 0.069234 0 0 KRT6A 3853 broad.mit.edu 37 12 52882204 52882204 + Silent SNP C C T TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr12:52882204C>T ENST00000330722.6 - 7 1400 c.1332G>A c.(1330-1332)ctG>ctA p.L444L NM_005554.3 NP_005545.1 P02538 K2C6A_HUMAN keratin 6A 444 Coil 2.|Rod. cell differentiation|ectoderm development|positive regulation of cell proliferation keratin filament protein binding|structural constituent of cytoskeleton p.L444L(1) breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|liver(1)|lung(14)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 39 BRCA - Breast invasive adenocarcinoma(357;0.189) ACTCCTTCAGCAGCCGGGCCA 0.612000 30 40 0 0 0.045705 0 0 DIS3L2 129563 broad.mit.edu 37 2 233075107 233075107 + Missense_Mutation SNP T T A TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr2:233075107T>A ENST00000325385.7 + 10 1472 c.1196T>A c.(1195-1197)cTc>cAc p.L399H DIS3L2_ENST00000409307.1_Missense_Mutation_p.L399H|DIS3L2_ENST00000273009.6_Missense_Mutation_p.L399H NM_152383.4 NP_689596.4 Q8IYB7 DI3L2_HUMAN DIS3 mitotic control homolog (S. cerevisiae)-like 2 399 exonuclease activity|ribonuclease activity|RNA binding p.L399H(1) breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(18)|ovary(1)|prostate(2)|urinary_tract(1) 40 all_hematologic(139;0.00809)|Renal(207;0.0113)|Acute lymphoblastic leukemia(138;0.0195)|all_lung(227;0.0465)|Lung NSC(271;0.136) Epithelial(121;1.6e-13)|BRCA - Breast invasive adenocarcinoma(100;0.00104)|LUSC - Lung squamous cell carcinoma(224;0.0109)|Lung(119;0.0149) TGCAAGCCACTCGCTGACGGT 0.512000 3 31 0 0 0.115264 0 0 ZNF594 84622 broad.mit.edu 37 17 5086349 5086349 + Silent SNP C C T TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr17:5086349C>T ENST00000399604.4 - 1 1343 c.1203G>A c.(1201-1203)gaG>gaA p.E401E ZNF594_ENST00000575779.1_Silent_p.E401E Q96JF6 ZN594_HUMAN zinc finger protein 594 401 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.E401E(1) NS(1)|breast(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(3)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 33 CATATGGTTTCTCTCCTGTAT 0.408000 17 303 0 0 0.033300 0 0 PARD6A 50855 broad.mit.edu 37 16 67696109 67696109 + Silent SNP G G C TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr16:67696109G>C ENST00000458121.2 + 3 688 c.597G>C c.(595-597)ggG>ggC p.G199G PARD6A_ENST00000602551.1_Silent_p.G170G|PARD6A_ENST00000219255.3_Silent_p.G200G NM_001037281.1|NM_016948.2 NP_001032358.1|NP_058644.1 Q9NPB6 PAR6A_HUMAN par-6 family cell polarity regulator alpha 200 Interaction with PARD3 and CDC42 (By similarity).|PDZ. cell cycle|cell division|cell-cell junction maintenance|tight junction assembly|viral reproduction cytosol|nucleus|ruffle|tight junction GTP-dependent protein binding|Rho GTPase binding|transcription factor binding p.G200G(1) central_nervous_system(1)|large_intestine(1)|lung(1)|ovary(1)|urinary_tract(2) 6 Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.047)|all cancers(182;0.228) TGGTACGTGGGGGTCTGGCTG 0.612000 9 83 0 0 0.093190 0 0 KRI1 65095 broad.mit.edu 37 19 10671688 10671688 + Silent SNP C C T rs140755508 TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr19:10671688C>T ENST00000312962.6 - 8 691 c.672G>A c.(670-672)ctG>ctA p.L224L KRI1_ENST00000361821.5_Silent_p.L220L|KRI1_ENST00000537964.1_5'UTR NM_023008.3 NP_075384.3 Q8N9T8 KRI1_HUMAN KRI1 homolog (S. cerevisiae) 224 Glu-rich. p.L224L(1) NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 26 Epithelial(33;9.2e-06)|all cancers(31;3.9e-05) CCAGTTCCTTCAGGGAATCTG 0.547000 21 42 0 0 0.069288 0 0 CC2D2B 387707 broad.mit.edu 37 10 97775978 97775978 + Silent SNP C C T TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr10:97775978C>T ENST00000344386.3 + 6 593 c.429C>T c.(427-429)atC>atT p.I143I CC2D2B_ENST00000371198.2_Intron|ENTPD1-AS1_ENST00000451364.1_RNA|ENTPD1-AS1_ENST00000416301.1_RNA|ENTPD1-AS1_ENST00000454638.1_RNA|CC2D2B_ENST00000410012.2_Silent_p.I143I|RP11-690P14.4_ENST00000475252.2_Intron|ENTPD1-AS1_ENST00000452728.1_RNA NM_001001732.3 NP_001001732.2 Q6DHV5 C2D2B_HUMAN coiled-coil and C2 domain containing 2B 143 p.I143I(2) large_intestine(1)|lung(7)|ovary(1)|urinary_tract(1) 10 Colorectal(252;0.158) Epithelial(162;7.08e-08)|all cancers(201;2.71e-06) GTTTAGCTATCGGAAATAAGG 0.418000 15 51 0 0 0.146539 0 0 PMS2P3 5387 broad.mit.edu 37 7 75141699 75141699 + RNA SNP G G A TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr7:75141699G>A ENST00000418756.1 - 0 1124 NR_028059.1 lung(1) 1 AGTTAGGTCGGCAAACTCTTG 0.418000 4 54 0 0 0.009096 0 0 MALT1 10892 broad.mit.edu 37 18 56402448 56402448 + Missense_Mutation SNP A A T TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr18:56402448A>T ENST00000348428.3 + 13 1748 c.1490A>T c.(1489-1491)gAa>gTa p.E497V RP11-126O1.4_ENST00000588835.1_RNA|MALT1_ENST00000345724.3_Missense_Mutation_p.E486V NM_006785.2|NM_173844.1 NP_006776.1|NP_776216.1 Q9UDY8 MALT1_HUMAN mucosa associated lymphoid tissue lymphoma translocation gene 1 497 Caspase-like. activation of NF-kappaB-inducing kinase activity|anti-apoptosis|nuclear export|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-2 production|positive regulation of NF-kappaB transcription factor activity|positive regulation of phosphorylation|positive regulation of protein ubiquitination|positive regulation of T cell cytokine production|protein oligomerization|proteolysis|T cell receptor signaling pathway CBM complex|cytosol|nucleus|perinuclear region of cytoplasm cysteine-type endopeptidase activity|protein self-association|signal transducer activity|ubiquitin-protein ligase activity p.E497V(1) central_nervous_system(1)|large_intestine(7)|lung(1)|ovary(2)|skin(1) 12 CAAGGAGCAGAAGCTTTTGAA 0.323000 T BIRC3 MALT 23 33 0 0 0.069288 0 0 EXOC3 11336 broad.mit.edu 37 5 462321 462321 + Nonsense_Mutation SNP G G T TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr5:462321G>T ENST00000512944.1 + 9 1741 c.1552G>T c.(1552-1554)Gag>Tag p.E518* EXOC3_ENST00000315013.5_Nonsense_Mutation_p.E518* NM_007277.4 NP_009208.2 O60645 EXOC3_HUMAN exocyst complex component 3 529 exocytosis|protein transport p.E518*(1) breast(2)|cervix(1)|endometrium(4)|large_intestine(1)|lung(13)|ovary(1)|urinary_tract(1) 23 Ovarian(839;0.0563) Epithelial(17;0.000529)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|all cancers(22;0.00186)|Lung(60;0.0863) TGAAGTGGAAGAGGGTGTGTC 0.547000 12 249 1.61879e-10 1.78277e-10 0.093190 1 0 PAK3 5063 broad.mit.edu 37 X 110435399 110435399 + Missense_Mutation SNP A A G TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chrX:110435399A>G ENST00000372007.5 + 12 1266 c.875A>G c.(874-876)cAa>cGa p.Q292R PAK3_ENST00000425146.1_Missense_Mutation_p.Q292R|PAK3_ENST00000519681.1_Missense_Mutation_p.Q313R|PAK3_ENST00000262836.4_Missense_Mutation_p.Q307R|PAK3_ENST00000518291.1_Missense_Mutation_p.Q328R|PAK3_ENST00000360648.4_Missense_Mutation_p.Q328R|PAK3_ENST00000446737.1_Missense_Mutation_p.Q292R|PAK3_ENST00000417227.1_Missense_Mutation_p.Q313R|PAK3_ENST00000372010.1_Missense_Mutation_p.Q307R NM_002578.3 NP_002569.1 O75914 PAK3_HUMAN p21 protein (Cdc42/Rac)-activated kinase 3 Protein kinase. multicellular organismal development ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding p.Q328R(1)|p.Q292R(1) breast(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(15)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4) 41 GCAACAGGACAAGAGGTAAGT 0.333000 TSP Lung(19;0.15) 7 173 0 0 0.029380 0 0 ADAM2 2515 broad.mit.edu 37 8 39604118 39604118 + Nonsense_Mutation SNP T T A TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr8:39604118T>A ENST00000265708.4 - 19 2150 c.2047A>T c.(2047-2049)Aaa>Taa p.K683* ADAM2_ENST00000347580.4_Nonsense_Mutation_p.K664*|ADAM2_ENST00000521880.1_Nonsense_Mutation_p.K620*|ADAM2_ENST00000379853.2_Nonsense_Mutation_p.K527* NM_001464.3 NP_001455.3 Q99965 ADAM2_HUMAN ADAM metallopeptidase domain 2 683 cell adhesion|fusion of sperm to egg plasma membrane|proteolysis integral to plasma membrane integrin binding|metalloendopeptidase activity|zinc ion binding p.K683*(1) haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(29)|ovary(3)|prostate(1)|skin(5)|urinary_tract(1) 53 all_cancers(7;2.38e-28)|all_epithelial(6;8.85e-21)|all_lung(54;1.24e-07)|Lung NSC(58;1.94e-07)|Hepatocellular(245;0.00745)|Breast(189;0.00908)|Renal(179;0.0183)|Colorectal(162;0.246) LUSC - Lung squamous cell carcinoma(45;0.000149) READ - Rectum adenocarcinoma(644;0.0689)|Kidney(114;0.162) CTCATTGGTTTGGAATGGTAA 0.294000 17 106 0 0 0.033300 0 0 SLC2A5 6518 broad.mit.edu 37 1 9101954 9101954 + Missense_Mutation SNP G G A TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr1:9101954G>A ENST00000377424.4 - 5 640 c.461C>T c.(460-462)gCc>gTc p.A154V SLC2A5_ENST00000535586.1_Missense_Mutation_p.A39V|SLC2A5_ENST00000536305.1_Missense_Mutation_p.A95V|SLC2A5_ENST00000377414.3_Missense_Mutation_p.A154V NM_003039.2 NP_003030.1 P22732 GTR5_HUMAN solute carrier family 2 (facilitated glucose/fructose transporter), member 5 154 carbohydrate metabolic process integral to membrane|plasma membrane fructose transmembrane transporter activity|glucose transmembrane transporter activity p.A154V(2) endometrium(6)|kidney(15)|large_intestine(6)|lung(4)|ovary(1)|pancreas(2)|prostate(1)|urinary_tract(1) 36 Ovarian(185;0.112)|all_lung(157;0.185) all_epithelial(116;1.34e-15)|all_lung(118;9.46e-05)|Lung NSC(185;0.000172)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.00715)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;7.78e-07)|COAD - Colon adenocarcinoma(227;8.83e-05)|Kidney(185;0.000286)|KIRC - Kidney renal clear cell carcinoma(229;0.00103)|STAD - Stomach adenocarcinoma(132;0.0019)|BRCA - Breast invasive adenocarcinoma(304;0.00199)|READ - Rectum adenocarcinoma(331;0.0649) GTTTTTAGGGGCCAGCTCCCC 0.537000 5 16 0 0 0.021553 0 0 PARD6A 50855 broad.mit.edu 37 16 67695398 67695398 + Nonsense_Mutation SNP C C A TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr16:67695398C>A ENST00000458121.2 + 2 195 c.104C>A c.(103-105)tCg>tAg p.S35* PARD6A_ENST00000602551.1_Nonsense_Mutation_p.S35*|PARD6A_ENST00000219255.3_Nonsense_Mutation_p.S35* NM_001037281.1|NM_016948.2 NP_001032358.1|NP_058644.1 Q9NPB6 PAR6A_HUMAN par-6 family cell polarity regulator alpha 35 Interaction with PRKCI and PRKCZ.|OPR. cell cycle|cell division|cell-cell junction maintenance|tight junction assembly|viral reproduction cytosol|nucleus|ruffle|tight junction GTP-dependent protein binding|Rho GTPase binding|transcription factor binding p.S35*(1) central_nervous_system(1)|large_intestine(1)|lung(1)|ovary(1)|urinary_tract(2) 6 Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.047)|all cancers(182;0.228) CCTCGCGCTTCGGTGAGCGGC 0.657000 18 78 1.15919e-05 1.22262e-05 0.049695 1 0 KCND3 3752 broad.mit.edu 37 1 112524482 112524482 + Silent SNP G G C TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr1:112524482G>C ENST00000369697.1 - 1 936 c.867C>G c.(865-867)ctC>ctG p.L289L KCND3_ENST00000315987.2_Silent_p.L289L|KCND3_ENST00000302127.4_Silent_p.L289L Q9UK17 KCND3_HUMAN potassium voltage-gated channel, Shal-related subfamily, member 3 289 sarcolemma|voltage-gated potassium channel complex A-type (transient outward) potassium channel activity|metal ion binding p.L289L(1) NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2) 49 all_cancers(81;8.52e-06)|all_epithelial(167;5.65e-06)|all_lung(203;2.72e-05)|Lung NSC(69;4.56e-05) all cancers(265;0.056)|Lung(183;0.0576)|Colorectal(144;0.1)|Epithelial(280;0.104)|COAD - Colon adenocarcinoma(174;0.222)|LUSC - Lung squamous cell carcinoma(189;0.231) GGAAGACCCGGAGCGTGACGA 0.602000 6 54 0 0 0.038147 0 0 CIZ1 25792 broad.mit.edu 37 9 130940682 130940682 + Missense_Mutation SNP C C G TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr9:130940682C>G ENST00000538431.1 - 9 1833 c.1586G>C c.(1585-1587)gGa>gCa p.G529A CIZ1_ENST00000277465.4_Missense_Mutation_p.G501A|CIZ1_ENST00000476727.2_Intron|CIZ1_ENST00000372954.1_Missense_Mutation_p.G449A|CIZ1_ENST00000541172.1_Missense_Mutation_p.G428A|CIZ1_ENST00000372938.5_Missense_Mutation_p.G529A|CIZ1_ENST00000393608.1_Missense_Mutation_p.G529A|CIZ1_ENST00000372948.3_Missense_Mutation_p.G473A|CIZ1_ENST00000325721.8_Missense_Mutation_p.G500A|CIZ1_ENST00000357558.5_Missense_Mutation_p.G501A NM_001257975.1 NP_001244904.1 Q9ULV3 CIZ1_HUMAN CDKN1A interacting zinc finger protein 1 529 nucleus nucleic acid binding|protein binding|zinc ion binding p.G529A(1) NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|liver(1)|lung(9)|ovary(3)|prostate(2)|urinary_tract(2) 35 TTCACATTCTCCCACATCTAG 0.562000 13 168 0 0 0.033300 0 0 ATP8B3 148229 broad.mit.edu 37 19 1800007 1800007 + Silent SNP C C A TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr19:1800007C>A ENST00000539485.1 - 14 1724 c.1491G>T c.(1489-1491)acG>acT p.T497T ATP8B3_ENST00000310127.6_Silent_p.T497T|ATP8B3_ENST00000525591.1_Silent_p.T450T|ATP8B3_ENST00000526092.2_Silent_p.T444T O60423 AT8B3_HUMAN ATPase, aminophospholipid transporter, class I, type 8B, member 3 497 ATP biosynthetic process ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity p.T497T(1) central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 23 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) TGAGCGTGCCCGTCTTGTCCG 0.617000 3 10 0.115264 0.11581 0.115264 1 0 SAMD9 54809 broad.mit.edu 37 7 92732369 92732369 + Silent SNP C C T TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr7:92732369C>T ENST00000379958.2 - 3 3311 c.3042G>A c.(3040-3042)gaG>gaA p.E1014E NM_001193307.1|NM_017654.3 NP_001180236.1|NP_060124.2 Q5K651 SAMD9_HUMAN sterile alpha motif domain containing 9 1014 cytoplasm p.E1014E(1) NS(1)|breast(4)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(20)|lung(32)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2) 88 all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125) STAD - Stomach adenocarcinoma(171;0.000302) AGAACAAATTCTCAGTTAGCA 0.373000 72 86 0 0 0.139131 0 0 CDH6 1004 broad.mit.edu 37 5 31317512 31317512 + Missense_Mutation SNP G G C TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr5:31317512G>C ENST00000265071.2 + 10 1808 c.1543G>C c.(1543-1545)Gat>Cat p.D515H CDH6_ENST00000514738.1_Missense_Mutation_p.D460H NM_004932.3 NP_004923.1 P55285 CADH6_HUMAN cadherin 6, type 2, K-cadherin (fetal kidney) 515 Cadherin 5. adherens junction organization|cell junction assembly|homophilic cell adhesion cytoplasm|integral to membrane|nucleus|plasma membrane calcium ion binding p.D515H(1) NS(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(42)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1) 77 TGTTGACAAGGATGACCCTTA 0.398000 20 246 0 0 0.069288 0 0 GZMB 3002 broad.mit.edu 37 14 25101100 25101100 + Silent SNP G G A rs149659869 by1000genomes TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr14:25101100G>A ENST00000216341.4 - 4 670 c.564C>T c.(562-564)tgC>tgT p.C188C RP11-104E19.1_ENST00000555300.1_RNA|GZMB_ENST00000382540.1_Silent_p.C143C|GZMB_ENST00000382542.1_Silent_p.C222C|GZMB_ENST00000415355.3_Silent_p.C176C|GZMB_ENST00000526004.1_3'UTR|RP11-104E19.1_ENST00000557736.1_RNA P10144 GRAB_HUMAN granzyme B (granzyme 2, cytotoxic T-lymphocyte-associated serine esterase 1) 188 Peptidase S1. activation of pro-apoptotic gene products|cleavage of lamin|cytolysis|induction of apoptosis by intracellular signals cytosol|immunological synapse|nucleus protein binding|serine-type endopeptidase activity p.C188C(1)|p.C222C(1) endometrium(2)|large_intestine(1)|lung(4)|stomach(4)|urinary_tract(2) 13 GBM - Glioblastoma multiforme(265;0.028) GGTCCCCCACGCACAACTCAA 0.458000 6 244 0 0 0.021553 0 0 PCSK1 5122 broad.mit.edu 37 5 95743998 95743998 + Silent SNP C C G TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr5:95743998C>G ENST00000311106.3 - 9 1362 c.1125G>C c.(1123-1125)acG>acC p.T375T PCSK1_ENST00000508626.1_Silent_p.T328T|CTD-2337A12.1_ENST00000502645.2_RNA|PCSK1_ENST00000513085.1_5'UTR NM_000439.4|NM_001177876.1 NP_000430.3|NP_001171347.1 P29120 NEC1_HUMAN proprotein convertase subtilisin/kexin type 1 375 Catalytic. cell-cell signaling|cellular nitrogen compound metabolic process|energy reserve metabolic process|hormone biosynthetic process|peptide biosynthetic process|peptide hormone processing|regulation of insulin secretion extracellular space|stored secretory granule|transport vesicle serine-type endopeptidase activity p.T375T(1) NS(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2) 36 all_cancers(142;2.67e-06)|all_epithelial(76;6.92e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.0112)|Colorectal(57;0.0341)|Breast(839;0.244) all cancers(79;3.44e-16) Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071) TGTGCGTCTCCGTGCAGTCAT 0.577000 6 20 0 0 0.029380 0 0 HK3 3101 broad.mit.edu 37 5 176323070 176323070 + Missense_Mutation SNP C C T TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr5:176323070C>T ENST00000292432.5 - 2 182 c.91G>A c.(91-93)Gag>Aag p.E31K NM_002115.2 NP_002106.2 P52790 HXK3_HUMAN hexokinase 3 (white cell) 31 Regulatory. glucose transport|glycolysis|transmembrane transport cytosol|membrane ATP binding|glucokinase activity p.E31K(2) breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(21)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 47 all_cancers(89;0.000104)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115) Medulloblastoma(196;0.00498)|all_neural(177;0.0138) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) CTTACCAGCTCTGAGCTGTCT 0.587000 19 57 0 0 0.038395 0 0 CHCHD5 84269 broad.mit.edu 37 2 113343831 113343831 + Missense_Mutation SNP G G C TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr2:113343831G>C ENST00000409719.1 + 3 251 c.198G>C c.(196-198)gaG>gaC p.E66D CHCHD5_ENST00000324913.5_Missense_Mutation_p.E66D|CHCHD5_ENST00000489052.1_3'UTR Q9BSY4 CHCH5_HUMAN coiled-coil-helix-coiled-coil-helix domain containing 5 66 CHCH. p.E66D(1) NS(1)|endometrium(1)|large_intestine(4)|urinary_tract(1) 7 AGGCCTTCGAGGAGTGTCTTC 0.632000 3 42 0 0 0.115264 0 0 PDE1C 5137 broad.mit.edu 37 7 31793151 31793151 + Silent SNP C C T TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr7:31793151C>T ENST00000396193.1 - 19 2750 c.2157G>A c.(2155-2157)ttG>ttA p.L719L PDE1C_ENST00000321453.7_Silent_p.L659L|PDE1C_ENST00000396191.1_Silent_p.L659L NM_001191058.1 NP_001177987.1 Q14123 PDE1C_HUMAN phosphodiesterase 1C, calmodulin-dependent 70kDa 659 activation of phospholipase C activity|nerve growth factor receptor signaling pathway cytosol calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding p.L719L(1)|p.L659L(1) NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(38)|prostate(4)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 81 GBM - Glioblastoma multiforme(11;0.216) TAAAATGACGCAAAGGAGGCT 0.483000 42 37 0 0 0.092188 0 0 INSM2 84684 broad.mit.edu 37 14 36003540 36003540 + Missense_Mutation SNP C C G TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr14:36003540C>G ENST00000307169.3 + 1 293 c.82C>G c.(82-84)Ctg>Gtg p.L28V NM_032594.3 NP_115983.3 Q96T92 INSM2_HUMAN insulinoma-associated 2 28 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.L28V(1) endometrium(3)|kidney(1)|large_intestine(1)|lung(3)|skin(1)|urinary_tract(1) 10 Breast(36;0.122)|Hepatocellular(127;0.158) LUAD - Lung adenocarcinoma(9;2.16e-07)|Lung(238;2.63e-07)|Epithelial(34;0.00145)|all cancers(34;0.00452) GBM - Glioblastoma multiforme(112;0.0223) TGTCTTCCCTCTGCTGGGGCC 0.687000 14 32 0 0 0.132662 0 0 CHST12 55501 broad.mit.edu 37 7 2472655 2472655 + Silent SNP G G C TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr7:2472655G>C ENST00000258711.6 + 2 516 c.381G>C c.(379-381)gtG>gtC p.V127V NM_001243794.1|NM_001243795.1|NM_018641.4 NP_001230723.1|NP_001230724.1|NP_061111.1 Q9NRB3 CHSTC_HUMAN carbohydrate (chondroitin 4) sulfotransferase 12 127 dermatan sulfate biosynthetic process integral to Golgi membrane 3'-phosphoadenosine 5'-phosphosulfate binding|chondroitin 4-sulfotransferase activity|protein binding p.V127V(1) NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|liver(1)|lung(7)|prostate(1)|skin(1)|urinary_tract(1) 21 Ovarian(82;0.0253) UCEC - Uterine corpus endometrioid carcinoma (27;0.0847)|OV - Ovarian serous cystadenocarcinoma(56;2.25e-13) GGAGGAGCGTGCTGCGGGGCT 0.706000 16 45 0 0 0.132662 0 0 DAB1 1600 broad.mit.edu 37 1 57480687 57480687 + Missense_Mutation SNP C C G TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr1:57480687C>G ENST00000371236.2 - 12 1576 c.1313G>C c.(1312-1314)tGt>tCt p.C438S DAB1_ENST00000485760.1_5'UTR|DAB1_ENST00000439789.2_Missense_Mutation_p.C352S|DAB1_ENST00000420954.2_Missense_Mutation_p.C436S|DAB1_ENST00000371234.4_Missense_Mutation_p.C438S|DAB1_ENST00000414851.2_Missense_Mutation_p.C420S|DAB1_ENST00000371231.1_Missense_Mutation_p.C471S O75553 DAB1_HUMAN Dab, reelin signal transducer, homolog 1 (Drosophila) 471 cell differentiation|nervous system development p.C438S(1) central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(5) 64 CTCTGAGGTACAGGTGAGGGA 0.547000 9 56 0 0 0.047766 0 0 SNHG14 104472715 broad.mit.edu 37 15 25422031 25422031 + RNA SNP A A C TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr15:25422031A>C ENST00000441592.2 + 0 224 SNORD115-4_ENST00000363810.1_RNA TGACTTAAAAATCATGCTCAA 0.522000 6 298 0 0 0.029380 0 0 RORC 6097 broad.mit.edu 37 1 151801935 151801935 + Splice_Site SNP C C T TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr1:151801935C>T ENST00000392697.3 - 3 231 c.e3-1 RORC_ENST00000318247.6_Splice_Site P51449 RORG_HUMAN RAR-related orphan receptor C regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nucleoplasm sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding p.?(1) autonomic_ganglia(1)|breast(2)|endometrium(4)|large_intestine(1)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14) LUSC - Lung squamous cell carcinoma(543;0.181) GCCAGCAGCTCTGTAAAGACA 0.532000 24 99 0 0 0.076483 0 0 CCDC33 80125 broad.mit.edu 37 15 74573023 74573023 + Missense_Mutation SNP C C G TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr15:74573023C>G ENST00000321288.5 + 11 1513 c.1513C>G c.(1513-1515)Ccg>Gcg p.P505A CCDC33_ENST00000398814.3_Missense_Mutation_p.P302A Q8N5R6 CCD33_HUMAN coiled-coil domain containing 33 505 protein binding p.P302A(1)|p.P505A(1) breast(2)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(17)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2) 39 AGGCAGCCAGCCGTGGACCCT 0.582000 7 67 0 0 0.029380 0 0 BBS9 27241 broad.mit.edu 37 7 33384191 33384191 + Splice_Site SNP A A T TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr7:33384191A>T ENST00000242067.6 + 12 1796 c.e12-1 BBS9_ENST00000354265.4_Splice_Site|BBS9_ENST00000355070.2_Splice_Site|BBS9_ENST00000396127.2_Splice_Site|BBS9_ENST00000350941.3_Splice_Site NM_198428.2 NP_940820.1 Q3SYG4 PTHB1_HUMAN Bardet-Biedl syndrome 9 fat cell differentiation|response to stimulus|visual perception BBSome|cilium membrane|microtubule organizing center|nucleus protein binding p.?(2) BBS9/PKD1L1(2) NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 50 GBM - Glioblastoma multiforme(11;0.0894) CTGTGTTTACAGCAAGCGACC 0.388000 Bardet-Biedl syndrome 26 94 0 0 0.116897 0 0 FAM63A 55793 broad.mit.edu 37 1 150973046 150973046 + Missense_Mutation SNP G G T TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr1:150973046G>T ENST00000361936.5 - 6 1576 c.622C>A c.(622-624)Ctg>Atg p.L208M FAM63A_ENST00000493834.2_Missense_Mutation_p.L113M|FAM63A_ENST00000312210.5_Missense_Mutation_p.L66M|FAM63A_ENST00000361738.6_Missense_Mutation_p.L256M|FAM63A_ENST00000470877.1_Intron NM_018379.4 NP_060849 Q8N5J2 FA63A_HUMAN family with sequence similarity 63, member A 208 protein binding p.L208M(1) breast(1)|endometrium(3)|large_intestine(4)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 23 all_lung(15;1.09e-34)|Lung NSC(24;1.1e-30)|Lung SC(34;0.00202)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185) UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211) TTGACATCCAGACCTGTGGCC 0.493000 14 130 8.60227e-14 9.57313e-14 0.146539 1 0 L3MBTL3 84456 broad.mit.edu 37 6 130413972 130413972 + Nonsense_Mutation SNP C C G TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr6:130413972C>G ENST00000529410.1 + 19 2080 c.1601C>G c.(1600-1602)tCa>tGa p.S534* L3MBTL3_ENST00000526019.1_Nonsense_Mutation_p.S509*|L3MBTL3_ENST00000368139.2_Nonsense_Mutation_p.S509*|L3MBTL3_ENST00000368136.2_Nonsense_Mutation_p.S534*|L3MBTL3_ENST00000533560.1_Nonsense_Mutation_p.S509*|L3MBTL3_ENST00000361794.2_Nonsense_Mutation_p.S534* Q96JM7 LMBL3_HUMAN l(3)mbt-like 3 (Drosophila) 534 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus p.S534*(1) cervix(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(22)|ovary(5)|skin(4)|stomach(1)|urinary_tract(1) 43 GBM - Glioblastoma multiforme(226;0.0266)|OV - Ovarian serous cystadenocarcinoma(155;0.154) GGCTGGTGTTCAAAAACAGGA 0.408000 23 110 0 0 0.083992 0 0 HRC 3270 broad.mit.edu 37 19 49657670 49657670 + Silent SNP G G T TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr19:49657670G>T ENST00000252825.4 - 1 1011 c.825C>A c.(823-825)ggC>ggA p.G275G HRC_ENST00000595625.1_Silent_p.G275G NM_002152.2 NP_002143.1 P23327 SRCH_HUMAN histidine rich calcium binding protein 275 4 X tandem repeats, acidic.|6 X approximate tandem repeats. muscle contraction sarcoplasmic reticulum lumen calcium ion binding p.G275G(1) endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(10)|lung(10)|ovary(1)|prostate(3)|urinary_tract(2) 34 all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392) all cancers(93;2.01e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.00019)|GBM - Glioblastoma multiforme(486;0.00279)|Epithelial(262;0.00622) CAATCCCGTGGCCTTGGTGCC 0.473000 27 44 6.12954e-19 6.83927e-19 0.099896 1 0 PTPN3 5774 broad.mit.edu 37 9 112185044 112185044 + Missense_Mutation SNP C C G TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr9:112185044C>G ENST00000412145.1 - 8 3250 c.697G>C c.(697-699)Gaa>Caa p.E233Q PTPN3_ENST00000446349.1_Intron|PTPN3_ENST00000374541.2_Missense_Mutation_p.E364Q|PTPN3_ENST00000262539.3_Intron NM_001145369.1|NM_001145371.1 NP_001138841.1|NP_001138843.1 P26045 PTN3_HUMAN protein tyrosine phosphatase, non-receptor type 3 364 FERM. negative regulation of membrane protein ectodomain proteolysis|negative regulation of mitotic cell cycle cytoplasm|cytoskeleton|internal side of plasma membrane ATPase binding|cytoskeletal protein binding|phosphotyrosine binding|protein tyrosine phosphatase activity p.E364*(1)|p.E364Q(1) breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 41 CTCTTGGTTTCTAAGTGCTCC 0.448000 5 212 0 0 0.021553 0 0 RPAP1 26015 broad.mit.edu 37 15 41817271 41817271 + Missense_Mutation SNP C C T TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr15:41817271C>T ENST00000304330.4 - 15 2109 c.1993G>A c.(1993-1995)Gag>Aag p.E665K RPAP1_ENST00000561603.1_Missense_Mutation_p.E665K NM_015540.2 NP_056355.2 Q9BWH6 RPAP1_HUMAN RNA polymerase II associated protein 1 665 nucleus DNA binding|DNA-directed RNA polymerase activity p.E665K(2) NS(1)|breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(16)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5) 45 all_cancers(109;6.59e-20)|all_epithelial(112;7.67e-17)|Lung NSC(122;5.34e-11)|all_lung(180;4.17e-10)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173) OV - Ovarian serous cystadenocarcinoma(18;2.84e-17)|GBM - Glioblastoma multiforme(113;1.68e-06)|Colorectal(105;0.0163)|BRCA - Breast invasive adenocarcinoma(123;0.117) TCAGCTTCCTCTGGGGGCAAG 0.617000 34 16 0 0 0.069456 0 0 GAB4 128954 broad.mit.edu 37 22 17449260 17449260 + Silent SNP C C T TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr22:17449260C>T ENST00000400588.1 - 5 1058 c.951G>A c.(949-951)aaG>aaA p.K317K GAB4_ENST00000523144.1_5'UTR NM_001037814.1 NP_001032903.1 Q2WGN9 GAB4_HUMAN GRB2-associated binding protein family, member 4 317 p.K317K(1) breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(24)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 44 all_epithelial(15;0.112)|Lung NSC(13;0.248) GCTGGGTGTACTTGCCGGAGG 0.577000 11 45 0 0 0.119110 0 0 PRG4 10216 broad.mit.edu 37 1 186273374 186273374 + Missense_Mutation SNP G G C TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr1:186273374G>C ENST00000445192.2 + 5 499 c.454G>C c.(454-456)Gag>Cag p.E152Q PRG4_ENST00000367483.4_Missense_Mutation_p.E111Q|PRG4_ENST00000367486.3_Missense_Mutation_p.E152Q|PRG4_ENST00000367484.3_Missense_Mutation_p.E111Q|PRG4_ENST00000367485.4_Intron NM_005807.3 NP_005798.2 Q92954 PRG4_HUMAN proteoglycan 4 152 cell proliferation|immune response extracellular region polysaccharide binding|protein binding|scavenger receptor activity p.E152Q(1) NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1) 102 TATAGAATCAGAGGAAATAAC 0.398000 6 73 0 0 0.021553 0 0 ERBB4 2066 broad.mit.edu 37 2 212530179 212530179 + Nonsense_Mutation SNP G G T TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr2:212530179G>T ENST00000342788.4 - 15 2050 c.1740C>A c.(1738-1740)tgC>tgA p.C580* ERBB4_ENST00000402597.1_Nonsense_Mutation_p.C580*|ERBB4_ENST00000436443.1_Nonsense_Mutation_p.C580* NM_005235.2 NP_005226.1 Q15303 ERBB4_HUMAN v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4 580 Cys-rich. cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway basolateral plasma membrane|cytoplasm|integral to membrane|nucleus ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity p.C580C(1)|p.C580*(1) NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 179 Renal(323;0.06)|Lung NSC(271;0.197) UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266) TAAAATGAGAGCACTTTGTAC 0.393000 TSP Lung(8;0.080) 7 59 0.00307968 0.00315407 0.038147 1 0 ARL6IP5 10550 broad.mit.edu 37 3 69153637 69153637 + Silent SNP G G A TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr3:69153637G>A ENST00000273258.3 + 3 521 c.417G>A c.(415-417)ttG>ttA p.L139L ARL6IP5_ENST00000478935.1_Intron NM_006407.3 NP_006398.1 O75915 PRAF3_HUMAN ADP-ribosylation-like factor 6 interacting protein 5 139 Targeting to endoplasmic reticulum membrane (By similarity). L-glutamate transport endoplasmic reticulum membrane|integral to membrane p.L139L(1) biliary_tract(1)|endometrium(1)|large_intestine(2)|ovary(1)|prostate(1)|urinary_tract(1) 7 Lung NSC(201;0.0193)|Prostate(884;0.174) BRCA - Breast invasive adenocarcinoma(55;7.78e-05)|Epithelial(33;0.000818)|LUSC - Lung squamous cell carcinoma(21;0.0118)|Lung(16;0.0189)|KIRC - Kidney renal clear cell carcinoma(39;0.203)|Kidney(39;0.238) ATGCATCGTTGAGACTTCGGA 0.443000 23 759 0 0 0.076483 0 0 INPP5F 22876 broad.mit.edu 37 10 121541205 121541205 + Silent SNP A A G TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr10:121541205A>G ENST00000361976.2 + 3 403 c.237A>G c.(235-237)ggA>ggG p.G79G INPP5F_ENST00000369083.3_Silent_p.G79G|INPP5F_ENST00000369081.1_5'UTR NM_014937.3 NP_055752.1 Q9Y2H2 SAC2_HUMAN inositol polyphosphate-5-phosphatase F 79 phosphoric ester hydrolase activity p.G79G(1) breast(1)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(9)|lung(5)|ovary(5)|pancreas(1)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 42 Lung NSC(174;0.109)|all_lung(145;0.142) all cancers(201;0.00205)|BRCA - Breast invasive adenocarcinoma(275;0.158) AACTCCCAGGAGACCATGAGG 0.423000 19 68 0 0 0.038395 0 0 LPHN2 23266 broad.mit.edu 37 1 82432119 82432119 + Silent SNP G G A TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr1:82432119G>A ENST00000370728.1 + 15 2808 c.2163G>A c.(2161-2163)cgG>cgA p.R721R LPHN2_ENST00000469377.2_Intron|LPHN2_ENST00000370730.1_Silent_p.R721R|LPHN2_ENST00000394879.1_Silent_p.R708R|LPHN2_ENST00000319517.6_Silent_p.R708R|LPHN2_ENST00000370717.2_Silent_p.R721R|LPHN2_ENST00000335786.5_Silent_p.R721R|LPHN2_ENST00000370715.1_Silent_p.R708R|LPHN2_ENST00000370723.1_Silent_p.R708R|LPHN2_ENST00000370713.1_Silent_p.R708R|LPHN2_ENST00000359929.3_Silent_p.R708R|LPHN2_ENST00000370721.1_Silent_p.R646R|LPHN2_ENST00000370727.1_Silent_p.R721R|LPHN2_ENST00000370725.1_Silent_p.R721R|LPHN2_ENST00000271029.4_Silent_p.R721R O95490 LPHN2_HUMAN latrophilin 2 721 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding p.R708R(1)|p.R721R(1) NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5) 119 all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248) TCATTTACCGGAGCCTGGGAC 0.373000 23 84 0 0 0.076483 0 0 PDE4C 5143 broad.mit.edu 37 19 18330071 18330071 + Missense_Mutation SNP C C G TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr19:18330071C>G ENST00000355502.3 - 12 1810 c.939G>C c.(937-939)caG>caC p.Q313H PDE4C_ENST00000598111.2_Missense_Mutation_p.Q83H|PDE4C_ENST00000262805.12_Missense_Mutation_p.Q281H|PDE4C_ENST00000447275.3_Missense_Mutation_p.Q207H|PDE4C_ENST00000539010.1_Missense_Mutation_p.Q82H|PDE4C_ENST00000597297.1_Missense_Mutation_p.Q83H|PDE4C_ENST00000594465.3_Missense_Mutation_p.Q313H|AC068499.10_ENST00000594805.3_RNA|PDE4C_ENST00000594617.3_Missense_Mutation_p.Q313H Q08493 PDE4C_HUMAN phosphodiesterase 4C, cAMP-specific 313 signal transduction cytosol 3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding p.Q313H(1) breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 33 Dyphylline(DB00651) CCTGGTCAGTCTGGACCCCAA 0.622000 3 56 0 0 0.115264 0 0 FKBP5 2289 broad.mit.edu 37 6 35565137 35565137 + Missense_Mutation SNP C C G TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr6:35565137C>G ENST00000542713.1 - 6 710 c.553G>C c.(553-555)Gat>Cat p.D185H FKBP5_ENST00000536438.1_Missense_Mutation_p.D185H|FKBP5_ENST00000357266.4_Missense_Mutation_p.D185H|FKBP5_ENST00000539068.1_Missense_Mutation_p.D185H|FKBP5_ENST00000540787.1_Missense_Mutation_p.D6H NM_001145777.1 NP_001139249.1 Q13451 FKBP5_HUMAN FK506 binding protein 5 185 PPIase FKBP-type 2. protein folding cytoplasm|membrane|nucleus FK506 binding|heat shock protein binding|peptidyl-prolyl cis-trans isomerase activity p.D185H(2) breast(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(3)|urinary_tract(2) 17 AATGCCACATCTCTGCAGTCA 0.488000 9 98 0 0 0.047766 0 0 SEC31B 25956 broad.mit.edu 37 10 102265919 102265919 + Missense_Mutation SNP C C G TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr10:102265919C>G ENST00000370345.3 - 9 1019 c.922G>C c.(922-924)Gat>Cat p.D308H SEC31B_ENST00000370329.5_Missense_Mutation_p.D311H|SEC31B_ENST00000535773.1_Missense_Mutation_p.D151H|SEC31B_ENST00000451524.1_Missense_Mutation_p.D308H NM_015490.3 NP_056305.1 Q9NQW1 SC31B_HUMAN SEC31 homolog B (S. cerevisiae) 308 protein transport|vesicle-mediated transport endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane p.D308H(1) NS(1)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(3)|lung(17)|ovary(1)|urinary_tract(1) 36 Colorectal(252;0.117) Epithelial(162;2.36e-10)|all cancers(201;2.09e-08) CACTGCACATCAAAGCACCAG 0.517000 12 98 0 0 0.080935 0 0 MLLT3 4300 broad.mit.edu 37 9 20620762 20620762 + Silent SNP G G A TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr9:20620762G>A ENST00000380338.4 - 2 370 c.84C>T c.(82-84)ttC>ttT p.F28F MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000429426.2_Silent_p.F25F NM_004529.2 NP_004520.2 P42568 AF9_HUMAN myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 28 YEATS. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding p.F28F(1) central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7) 66 GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05) AGTCGTGGGTGAAGCCCTCCA 0.602000 T MLL ALL 21 119 0 0 0.083992 0 0 CGN 57530 broad.mit.edu 37 1 151506505 151506505 + Silent SNP C C A rs142498835 TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr1:151506505C>A ENST00000271636.7 + 15 2930 c.2797C>A c.(2797-2799)Cgg>Agg p.R933R NM_020770.2 NP_065821.1 Q9P2M7 CING_HUMAN cingulin 927 myosin complex|tight junction actin binding|motor activity p.R933R(1) NS(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 45 Ovarian(49;0.0273)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185) LUSC - Lung squamous cell carcinoma(543;0.181) GGACACAGCCCGGCTGGACAA 0.637000 4 50 0.00909568 0.00920422 0.009096 1 0 KIF7 374654 broad.mit.edu 37 15 90172769 90172769 + Missense_Mutation SNP C C G TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr15:90172769C>G ENST00000394412.3 - 17 3430 c.3354G>C c.(3352-3354)caG>caC p.Q1118H NM_198525.2 NP_940927.2 Q2M1P5 KIF7_HUMAN kinesin family member 7 1118 microtubule-based movement|negative regulation of smoothened signaling pathway|positive regulation of smoothened signaling pathway cilium ATP binding|microtubule motor activity|protein binding p.Q605H(1)|p.Q1118H(1) central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(2)|stomach(1)|urinary_tract(1) 25 Lung NSC(78;0.0237)|all_lung(78;0.0478) BRCA - Breast invasive adenocarcinoma(143;0.128) AGAAGGCAATCTGCTGCTGGT 0.622000 13 61 0 0 0.033300 0 0 STAB1 23166 broad.mit.edu 37 3 52556921 52556921 + Missense_Mutation SNP C C T TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr3:52556921C>T ENST00000321725.6 + 62 6951 c.6875C>T c.(6874-6876)tCa>tTa p.S2292L NM_015136.2 NP_055951.2 Q9NY15 STAB1_HUMAN stabilin 1 2292 Link. cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis integral to plasma membrane bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity p.S2292L(2) breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3) 76 BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482) AAGAACCTCTCAGAACGCTGG 0.617000 4 46 0 0 0.009096 0 0 CHRNB3 1142 broad.mit.edu 37 8 42585836 42585836 + Missense_Mutation SNP C C A TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr8:42585836C>A ENST00000289957.2 + 4 477 c.349C>A c.(349-351)Ctc>Atc p.L117I NM_000749.3 NP_000740.1 Q05901 ACHB3_HUMAN cholinergic receptor, nicotinic, beta 3 (neuronal) 117 synaptic transmission, cholinergic cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane nicotinic acetylcholine-activated cation-selective channel activity|receptor activity p.L117I(1) endometrium(4)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(2)|urinary_tract(2) 25 all_lung(13;5.7e-12)|Lung NSC(13;1.6e-10)|Ovarian(28;0.00579)|Prostate(17;0.0119)|Lung SC(25;0.184) all_lung(54;0.00026)|Lung NSC(58;0.000992)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954) Lung(22;0.0199)|LUSC - Lung squamous cell carcinoma(45;0.0869) TGACATAGTTCTCTTTGAAAA 0.398000 14 34 9.31168e-06 9.84577e-06 0.105934 1 0 OR10A5 144124 broad.mit.edu 37 11 6867721 6867721 + Missense_Mutation SNP G G C TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr11:6867721G>C ENST00000299454.4 + 1 839 c.808G>C c.(808-810)Gag>Cag p.E270Q OR10A5_ENST00000379831.2_Missense_Mutation_p.E274Q Q9H207 O10A5_HUMAN olfactory receptor, family 10, subfamily A, member 5 270 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.E270Q(1) endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|ovary(1)|skin(2)|urinary_tract(2) 21 Medulloblastoma(188;0.0523)|all_neural(188;0.236) Epithelial(150;4.68e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129) TAATTCTCCTGAGAGCAAGAA 0.423000 59 171 0 0 0.139131 0 0 PPP6R2 9701 broad.mit.edu 37 22 50869673 50869673 + Silent SNP C C G TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr22:50869673C>G ENST00000359139.3 + 11 1591 c.1197C>G c.(1195-1197)ctC>ctG p.L399L PPP6R2_ENST00000216061.5_Silent_p.L399L|PPP6R2_ENST00000395744.3_Silent_p.L399L|PPP6R2_ENST00000395741.3_Silent_p.L400L NM_001242898.1|NM_001242899.1|NM_001242900.1|NM_014678.4 NP_001229827.1|NP_001229828.1|NP_001229829.1|NP_055493.2 O75170 PP6R2_HUMAN protein phosphatase 6, regulatory subunit 2 399 cytoplasm|intracellular membrane-bounded organelle protein binding p.L399L(1) NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(6)|ovary(2)|skin(1)|urinary_tract(1) 22 CCGCTATTCTCTCCCACGCTG 0.547000 31 100 0 0 0.074837 0 0 NRIP1 8204 broad.mit.edu 37 21 16337647 16337647 + Missense_Mutation SNP G G C TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr21:16337647G>C ENST00000400202.1 - 3 3579 c.2867C>G c.(2866-2868)tCt>tGt p.S956C NRIP1_ENST00000318948.4_Missense_Mutation_p.S956C|NRIP1_ENST00000400199.1_Missense_Mutation_p.S956C P48552 NRIP1_HUMAN nuclear receptor interacting protein 1 956 androgen receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent androgen receptor binding|estrogen receptor binding|glucocorticoid receptor binding|transcription coactivator activity|transcription corepressor activity p.S956C(1) cervix(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|lung(13)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4) 39 Epithelial(23;1.19e-05)|all cancers(11;4.64e-05)|COAD - Colon adenocarcinoma(22;0.000232)|Colorectal(24;0.0006)|OV - Ovarian serous cystadenocarcinoma(11;0.00418)|Lung(58;0.199)|LUSC - Lung squamous cell carcinoma(23;0.24) GTCAGCCACAGAGTTACTTCT 0.418000 39 193 0 0 0.086207 0 0 ZNF207 7756 broad.mit.edu 37 17 30678830 30678830 + Missense_Mutation SNP G G A TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr17:30678830G>A ENST00000394670.4 + 2 236 c.67G>A c.(67-69)Gag>Aag p.E23K ZNF207_ENST00000394673.2_Missense_Mutation_p.E23K|ZNF207_ENST00000341711.6_Missense_Mutation_p.E23K|ZNF207_ENST00000577908.1_Missense_Mutation_p.E23K|RP11-227G15.3_ENST00000581915.1_RNA|ZNF207_ENST00000342555.6_Missense_Mutation_p.E26K|ZNF207_ENST00000321233.6_Missense_Mutation_p.E23K NM_001098507.1 NP_001091977.1 O43670 ZN207_HUMAN zinc finger protein 207 23 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.E23K(1) breast(1)|endometrium(2)|kidney(2)|lung(3)|urinary_tract(2) 10 Breast(31;0.116)|Ovarian(249;0.182) BRCA - Breast invasive adenocarcinoma(9;0.239) TTTTGATGATGAGAAGATCCT 0.338000 18 616 0 0 0.043863 0 0 UNC5D 137970 broad.mit.edu 37 8 35541109 35541109 + Silent SNP C C T TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr8:35541109C>T ENST00000287272.2 + 5 635 c.615C>T c.(613-615)gaC>gaT p.D205D UNC5D_ENST00000420357.1_Silent_p.D205D|UNC5D_ENST00000404895.2_Silent_p.D205D|UNC5D_ENST00000453357.2_Silent_p.D200D|UNC5D_ENST00000416672.1_Silent_p.D205D Q6UXZ4 UNC5D_HUMAN unc-5 homolog D (C. elegans) 205 Ig-like C2-type. apoptosis|axon guidance integral to membrane receptor activity p.D200D(1) NS(2)|breast(7)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(56)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(6)|urinary_tract(2) 112 READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723) CTGAACAAGACGAGAACATTG 0.463000 3 27 0 0 0.009096 0 0 PPAP2B 8613 broad.mit.edu 37 1 56990007 56990007 + Missense_Mutation SNP C C T TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr1:56990007C>T ENST00000371250.3 - 3 1068 c.517G>A c.(517-519)Gaa>Aaa p.E173K NM_003713.4 NP_003704.3 O14495 LPP3_HUMAN phosphatidic acid phosphatase type 2B 173 canonical Wnt receptor signaling pathway involved in positive regulation of cell-cell adhesion|canonical Wnt receptor signaling pathway involved in positive regulation of endothelial cell migration|canonical Wnt receptor signaling pathway involved in positive regulation of wound healing|germ cell migration|homotypic cell-cell adhesion|negative regulation of protein phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|sphingolipid metabolic process adherens junction|Golgi apparatus|integral to membrane phosphatidate phosphatase activity|phosphoprotein phosphatase activity|protein binding|sphingosine-1-phosphate phosphatase activity p.E173K(1) cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 17 ATGTAGCCTTCAGAGCAGTTG 0.537000 44 132 0 0 0.117977 0 0 BMPR2 659 broad.mit.edu 37 2 203420419 203420419 + Silent SNP C C G TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr2:203420419C>G ENST00000374580.4 + 12 2570 c.2031C>G c.(2029-2031)ctC>ctG p.L677L BMPR2_ENST00000374574.2_Intron NM_001204.6 NP_001195.2 Q13873 BMPR2_HUMAN bone morphogenetic protein receptor, type II (serine/threonine kinase) 677 anterior/posterior pattern formation|BMP signaling pathway|cellular response to starvation|lung alveolus development|mesoderm formation|negative regulation of cell growth|negative regulation of systemic arterial blood pressure|negative regulation of vasoconstriction|positive regulation of BMP signaling pathway|positive regulation of bone mineralization|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of epithelial cell migration|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|regulation of lung blood pressure|transcription from RNA polymerase II promoter|vascular endothelial growth factor receptor signaling pathway integral to plasma membrane ATP binding|metal ion binding|transforming growth factor beta receptor activity p.L677L(1) autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(11)|lung(7)|ovary(4)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(2) 42 ATAAGAACCTCAAGGAAAGCT 0.463000 10 68 0 0 0.058154 0 0 ZCCHC7 84186 broad.mit.edu 37 9 37126516 37126516 + Missense_Mutation SNP G G C TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr9:37126516G>C ENST00000336755.5 + 2 293 c.187G>C c.(187-189)Gaa>Caa p.E63Q ZCCHC7_ENST00000322831.6_Missense_Mutation_p.E62Q|ZCCHC7_ENST00000461038.1_3'UTR|ZCCHC7_ENST00000534928.1_Intron NM_032226.2 NP_115602.2 Q8N3Z6 ZCHC7_HUMAN zinc finger, CCHC domain containing 7 63 nucleic acid binding|zinc ion binding p.E63Q(1) central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1) 30 GBM - Glioblastoma multiforme(29;0.0137) TGGGAATTCGGAATCTTCGAG 0.423000 10 226 0 0 0.058154 0 0 GAD1 2571 broad.mit.edu 37 2 171709254 171709254 + Missense_Mutation SNP G G C TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr2:171709254G>C ENST00000358196.3 + 13 1765 c.1215G>C c.(1213-1215)aaG>aaC p.K405N NM_000817.2 NP_000808.2 Q99259 DCE1_HUMAN glutamate decarboxylase 1 (brain, 67kDa) 405 glutamate decarboxylation to succinate|neurotransmitter biosynthetic process|neurotransmitter secretion|protein-pyridoxal-5-phosphate linkage clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|plasma membrane glutamate decarboxylase activity|protein binding|pyridoxal phosphate binding p.K405N(1) endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(15)|ovary(1)|urinary_tract(2) 35 L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114) ACCCTCACAAGATGATGGGCG 0.507000 5 28 0 0 0.014758 0 0 RSPH9 221421 broad.mit.edu 37 6 43624433 43624433 + Missense_Mutation SNP G G A TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr6:43624433G>A ENST00000372165.4 + 4 651 c.598G>A c.(598-600)Gac>Aac p.D200N RSPH9_ENST00000372163.4_Missense_Mutation_p.D215N NM_001193341.1 NP_001180270.1 Q9H1X1 RSPH9_HUMAN radial spoke head 9 homolog (Chlamydomonas) 215 cilium axoneme assembly|cilium movement cytoplasm|cytoskeleton p.D200N(1)|p.D215N(1) NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 12 GGATTTCATGGACTCCTTGGA 0.517000 Kartagener syndrome 10 434 0 0 0.080935 0 0 DAB1 1600 broad.mit.edu 37 1 57480619 57480619 + Missense_Mutation SNP C C A TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr1:57480619C>A ENST00000371236.2 - 12 1644 c.1381G>T c.(1381-1383)Gac>Tac p.D461Y DAB1_ENST00000485760.1_5'UTR|DAB1_ENST00000439789.2_Missense_Mutation_p.D375Y|DAB1_ENST00000420954.2_Missense_Mutation_p.D459Y|DAB1_ENST00000371234.4_Missense_Mutation_p.D461Y|DAB1_ENST00000414851.2_Missense_Mutation_p.D443Y|DAB1_ENST00000371231.1_Missense_Mutation_p.D494Y O75553 DAB1_HUMAN Dab, reelin signal transducer, homolog 1 (Drosophila) 494 cell differentiation|nervous system development p.D461Y(1) central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(5) 64 ATGTCAAAGTCATCACAGTCG 0.522000 12 69 2.27111e-07 2.43169e-07 0.093190 1 0 KALRN 8997 broad.mit.edu 37 3 124413264 124413264 + Silent SNP G G A TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr3:124413264G>A ENST00000291478.5 + 20 2563 c.2400G>A c.(2398-2400)cgG>cgA p.R800R KALRN_ENST00000360013.3_Silent_p.R2497R|KALRN_ENST00000428018.2_Silent_p.R768R NM_007064.3 NP_008995.2 O60229 KALRN_HUMAN kalirin, RhoGEF kinase apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport actin cytoskeleton|cytosol ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity p.R2497R(1)|p.R800R(1) NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 83 TCTGTGGGCGGCCAAAGCCCA 0.532000 4 117 0 0 0.009096 0 0 LRP1B 53353 broad.mit.edu 37 2 141128375 141128375 + Missense_Mutation SNP G G A TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr2:141128375G>A ENST00000389484.3 - 71 11883 c.10912C>T c.(10912-10914)Cgg>Tgg p.R3638W NM_018557.2 NP_061027.2 Q9NZR2 LRP1B_HUMAN low density lipoprotein receptor-related protein 1B 3638 LDL-receptor class A 29. protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding p.R3638W(1) NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5) 606 all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101) UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103) TTTTTGCACCGAAACTGATCT 0.383000 TSP Lung(27;0.18) 4 139 0 0 0.009096 0 0 NPY2R 4887 broad.mit.edu 37 4 156136153 156136153 + Silent SNP C C A TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr4:156136153C>A ENST00000329476.3 + 2 1551 c.1062C>A c.(1060-1062)tcC>tcA p.S354S NPY2R_ENST00000506608.1_Silent_p.S354S NM_000910.2 NP_000901.1 P49146 NPY2R_HUMAN neuropeptide Y receptor Y2 354 cardiac left ventricle morphogenesis|inhibition of adenylate cyclase activity by G-protein signaling pathway|locomotory behavior|outflow tract morphogenesis integral to plasma membrane calcium channel regulator activity p.S354S(1) breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(17)|prostate(1)|skin(5)|urinary_tract(1) 36 all_hematologic(180;0.24) Renal(120;0.0854) CTGAGGTGTCCGTGACATTCA 0.507000 18 75 1.33834e-09 1.45875e-09 0.043863 1 0 PAGE1 8712 broad.mit.edu 37 X 49454135 49454135 + Missense_Mutation SNP C C T TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chrX:49454135C>T ENST00000376150.3 - 5 436 c.304G>A c.(304-306)Gaa>Aaa p.E102K NM_003785.3 NP_003776.2 O75459 GAGB1_HUMAN P antigen family, member 1 (prostate associated) 102 cellular defense response p.E102K(1) endometrium(1)|large_intestine(2)|lung(2)|skin(1)|urinary_tract(1) 7 Ovarian(276;0.236) CTATCCGCTTCAGGCTCTGGC 0.353000 29 72 0 0 0.064281 0 0 TP53 7157 broad.mit.edu 37 17 7577122 7577122 + Silent SNP C C T TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr17:7577122C>T ENST00000420246.2 - 8 948 c.816G>A c.(814-816)gtG>gtA p.V272V TP53_ENST00000269305.4_Silent_p.V272V|TP53_ENST00000413465.2_Intron|TP53_ENST00000445888.2_Silent_p.V272V|TP53_ENST00000455263.2_Silent_p.V272V|TP53_ENST00000359597.4_Silent_p.V272V NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 272 Interaction with AXIN1 (By similarity).|Interaction with E4F1.|Interaction with HIPK1 (By similarity). V -> A (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|V -> E (in sporadic cancers; somatic mutation).|V -> G (in sporadic cancers; somatic mutation).|V -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|V -> M (in sporadic cancers; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.0?(8)|p.V272V(5)|p.?(2)|p.V272>?(2)|p.F270fs*72(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.E258fs*71(1)|p.F270_D281del12(1)|p.R273fs*33(1)|p.E271_R273delEVR(1)|p.V272_K292del21(1) NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79) 24185 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) CACAAACACGCACCTCAAAGC 0.537000 111 """Mis, N, F""" """breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types""" """breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types""" Other conserved DNA damage response genes Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 7 10 0 0 0.047766 0 0 LMOD2 442721 broad.mit.edu 37 7 123302335 123302335 + Missense_Mutation SNP T T C TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr7:123302335T>C ENST00000458573.2 + 2 852 c.695T>C c.(694-696)tTt>tCt p.F232S LMOD2_ENST00000456238.2_Intron NM_207163.1 NP_997046.1 Q6P5Q4 LMOD2_HUMAN leiomodin 2 (cardiac) 232 cytoskeleton actin binding|tropomyosin binding p.F232S(1) CTTACCCGCTTTGCTGAAGCC 0.488000 5 21 0 0 0.021553 0 0 TLR5 7100 broad.mit.edu 37 1 223285979 223285979 + Missense_Mutation SNP G G C TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr1:223285979G>C ENST00000540964.1 - 4 856 c.395C>G c.(394-396)tCt>tGt p.S132C TLR5_ENST00000342210.6_Missense_Mutation_p.S132C O60602 TLR5_HUMAN toll-like receptor 5 132 cellular response to mechanical stimulus|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of interleukin-8 production|positive regulation of toll-like receptor signaling pathway integral to membrane|plasma membrane interleukin-1 receptor binding|transmembrane receptor activity p.S132C(1) breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 32 GBM - Glioblastoma multiforme(131;0.0851) TACAGCATCAGAGAGACCACA 0.383000 7 91 0 0 0.038147 0 0 KCNK3 3777 broad.mit.edu 37 2 26950989 26950989 + Silent SNP C C T TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr2:26950989C>T ENST00000302909.3 + 2 863 c.738C>T c.(736-738)ttC>ttT p.F246F NM_002246.2 NP_002237.1 O14649 KCNK3_HUMAN potassium channel, subfamily K, member 3 246 synaptic transmission integral to plasma membrane p.F246F(1) endometrium(3)|large_intestine(4)|lung(5)|ovary(1)|urinary_tract(1) 14 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) TGCTGCGCTTCATGACCATGA 0.697000 6 4 0 0 0.029380 0 0 TSPAN7 7102 broad.mit.edu 37 X 38534989 38534989 + Missense_Mutation SNP A A T TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chrX:38534989A>T ENST00000378482.2 + 5 649 c.472A>T c.(472-474)Aac>Tac p.N158Y TM4SF2_ENST00000465127.1_Missense_Mutation_p.N188Y|TSPAN7_ENST00000545599.1_Missense_Mutation_p.N132Y|TSPAN7_ENST00000422612.2_Missense_Mutation_p.N184Y|TSPAN7_ENST00000286824.6_Missense_Mutation_p.N175Y|TSPAN7_ENST00000488893.1_3'UTR NM_004615.3 NP_004606.2 P41732 TSN7_HUMAN tetraspanin 7 158 interspecies interaction between organisms integral to plasma membrane p.N153Y(1)|p.N158Y(1) haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1) 11 GAACTACACCAACTGGAGCAC 0.483000 23 50 0 0 0.069288 0 0 LRRC7 57554 broad.mit.edu 37 1 70541913 70541913 + Missense_Mutation SNP G G A TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr1:70541913G>A ENST00000310961.5 + 24 4562 c.4144G>A c.(4144-4146)Gga>Aga p.G1382R LRRC7_ENST00000415775.2_Missense_Mutation_p.G708R|LRRC7_ENST00000035383.5_Missense_Mutation_p.G1424R Q96NW7 LRRC7_HUMAN leucine rich repeat containing 7 1424 centrosome|focal adhesion|nucleolus protein binding p.G1424R(1) breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2) 162 GGCCACCCGGGGACCTCAGCC 0.468000 5 89 0 0 0.021553 0 0 EP400 57634 broad.mit.edu 37 12 132475243 132475243 + Missense_Mutation SNP G G T TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr12:132475243G>T ENST00000333577.4 + 10 2830 c.2721G>T c.(2719-2721)caG>caT p.Q907H EP400_ENST00000330386.6_Missense_Mutation_p.Q871H|EP400_ENST00000389561.2_Missense_Mutation_p.Q871H|EP400_ENST00000332482.4_Missense_Mutation_p.Q834H|EP400_ENST00000389562.2_Missense_Mutation_p.Q870H Q96L91 EP400_HUMAN E1A binding protein p400 907 histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent NuA4 histone acetyltransferase complex|nuclear speck ATP binding|DNA binding|helicase activity p.Q870H(1) NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3) 161 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.198) OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06) TAAATTTACAGAAAGTTTCCA 0.393000 13 51 1.49906e-05 1.57717e-05 0.119110 1 0 DAP3 7818 broad.mit.edu 37 1 155695275 155695275 + Missense_Mutation SNP C C G TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr1:155695275C>G ENST00000368336.5 + 5 497 c.373C>G c.(373-375)Ctt>Gtt p.L125V DAP3_ENST00000421487.2_Missense_Mutation_p.L91V|MSTO1_ENST00000452804.2_Intron|DAP3_ENST00000496863.1_3'UTR|DAP3_ENST00000343043.3_Missense_Mutation_p.L125V|MSTO1_ENST00000538143.1_Intron|DAP3_ENST00000535183.1_Missense_Mutation_p.L84V|DAP3_ENST00000471642.2_Missense_Mutation_p.L84V NM_001199849.1|NM_004632.3 NP_001186778.1|NP_004623.1 P51398 RT29_HUMAN death associated protein 3 125 induction of apoptosis by extracellular signals mitochondrial ribosome|nucleolus|small ribosomal subunit protein binding p.L125V(1) breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1) 24 Hepatocellular(266;0.0997)|all_hematologic(923;0.145) TATACGATATCTTCTGTGTAT 0.438000 25 141 0 0 0.144211 0 0 CCDC142 84865 broad.mit.edu 37 2 74709901 74709901 + Missense_Mutation SNP G G C TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr2:74709901G>C ENST00000393965.3 - 1 460 c.64C>G c.(64-66)Caa>Gaa p.Q22E CCDC142_ENST00000290418.4_Missense_Mutation_p.Q22E|CCDC142_ENST00000471713.1_Intron NM_032779.3 NP_116168.3 Q17RM4 CC142_HUMAN coiled-coil domain containing 142 22 p.Q22E(1) central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2) 16 CCCCCGGGTTGCGCCCTCAGC 0.672000 7 63 0 0 0.029380 0 0 ADAMTS9 56999 broad.mit.edu 37 3 64644236 64644236 + Missense_Mutation SNP C C A TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr3:64644236C>A ENST00000498707.1 - 4 1253 c.911G>T c.(910-912)aGa>aTa p.R304I ADAMTS9_ENST00000295903.4_Missense_Mutation_p.R304I|ADAMTS9_ENST00000459780.1_Missense_Mutation_p.R304I NM_182920.1 NP_891550.1 Q9P2N4 ATS9_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 9 304 Peptidase M12B. glycoprotein catabolic process|multicellular organismal development|proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding p.R304I(1) breast(3)|central_nervous_system(4)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(17)|liver(4)|lung(43)|ovary(3)|prostate(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 100 Lung NSC(201;0.00682) BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221) TGAAACCATTCTGTTGTCTGC 0.368000 24 572 1.96895e-08 2.13512e-08 0.076483 1 0 CTSS 1520 broad.mit.edu 37 1 150727584 150727584 + Missense_Mutation SNP G G A TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr1:150727584G>A ENST00000368985.3 - 4 552 c.292C>T c.(292-294)Ccc>Tcc p.P98S CTSS_ENST00000448301.2_Intron|CTSS_ENST00000480760.1_5'UTR NM_001199739.1|NM_004079.4 NP_001186668.1|NP_004070.3 P25774 CATS_HUMAN cathepsin S 98 immune response|proteolysis extracellular region|lysosome cysteine-type endopeptidase activity p.P98S(1) cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|skin(1)|stomach(1)|urinary_tract(1) 15 all_cancers(9;6.17e-52)|all_epithelial(9;9.7e-43)|all_lung(15;5.74e-35)|Lung NSC(24;2.09e-31)|Breast(34;0.00146)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171) UCEC - Uterine corpus endometrioid carcinoma (35;0.0485)|Epithelial(6;5.02e-21)|all cancers(9;1.28e-20)|OV - Ovarian serous cystadenocarcinoma(6;1.09e-14)|BRCA - Breast invasive adenocarcinoma(12;0.00501)|LUSC - Lung squamous cell carcinoma(543;0.171) CACTGGCTGGGAACTCTCAGG 0.408000 8 302 0 0 0.038147 0 0 CEP97 79598 broad.mit.edu 37 3 101481386 101481386 + Missense_Mutation SNP C C G TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr3:101481386C>G ENST00000341893.3 + 10 2627 c.1875C>G c.(1873-1875)ttC>ttG p.F625L CEP97_ENST00000494050.1_Missense_Mutation_p.F566L|CEP97_ENST00000327230.4_Missense_Mutation_p.F625L Q8IW35 CEP97_HUMAN centrosomal protein 97kDa 625 CEP110 binding. centrosome|nucleus protein binding p.F625L(2) cervix(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 29 AAGAAGCTTTCAGATTCCTTT 0.328000 17 123 0 0 0.038395 0 0 MED7 9443 broad.mit.edu 37 5 156565803 156565803 + Missense_Mutation SNP G G C TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr5:156565803G>C ENST00000286317.5 - 2 1021 c.640C>G c.(640-642)Cag>Gag p.Q214E MED7_ENST00000420343.1_Missense_Mutation_p.Q214E NM_004270.4 NP_004261.1 O43513 MED7_HUMAN mediator complex subunit 7 214 regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter mediator complex|transcription factor complex protein binding|transcription coactivator activity p.Q214E(1) kidney(1)|large_intestine(1)|lung(3)|urinary_tract(2) 7 Renal(175;0.00212) Medulloblastoma(196;0.0354)|all_neural(177;0.0999) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) TCTATAATCTGATCTCTCCTA 0.348000 43 223 0 0 0.131918 0 0 TTN 7273 broad.mit.edu 37 2 179474576 179474576 + Missense_Mutation SNP C C T TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr2:179474576C>T ENST00000589042.1 - 272 51798 c.51574G>A c.(51574-51576)Gaa>Aaa p.E17192K TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.E8252K|TTN_ENST00000342992.6_Missense_Mutation_p.E14624K|TTN_ENST00000342175.6_Missense_Mutation_p.E8319K|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.E15551K|TTN_ENST00000460472.2_Missense_Mutation_p.E8127K|TTN-AS1_ENST00000585451.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 15551 Fibronectin type-III 24. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity p.E14624K(2)|p.E8319K(1)|p.E8127K(1)|p.E8252K(1) NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) TTCCACCTTTCTTCACCCTTA 0.463000 50 486 0 0 0.139131 0 0 VPS13A 23230 broad.mit.edu 37 9 79890500 79890500 + Silent SNP A A C TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr9:79890500A>C ENST00000360280.3 + 25 2859 c.2599A>C c.(2599-2601)Aga>Cga p.R867R VPS13A_ENST00000376636.3_Silent_p.R867R|VPS13A_ENST00000376634.4_Silent_p.R867R|VPS13A_ENST00000357409.5_Silent_p.R867R NM_033305.2 NP_150648.2 Q96RL7 VP13A_HUMAN vacuolar protein sorting 13 homolog A (S. cerevisiae) 867 Golgi to endosome transport|protein transport intracellular protein binding p.R867R(3) breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(28)|liver(1)|lung(42)|ovary(3)|pancreas(3)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)|urinary_tract(1) 104 TATTCGAACCAGAAAGTTACA 0.348000 30 170 0 0 0.116897 0 0 ASB17 127247 broad.mit.edu 37 1 76397741 76397741 + Missense_Mutation SNP T T C TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr1:76397741T>C ENST00000284142.6 - 1 375 c.236A>G c.(235-237)tAc>tGc p.Y79C NM_080868.2 NP_543144.1 Q8WXJ9 ASB17_HUMAN ankyrin repeat and SOCS box containing 17 79 intracellular signal transduction p.Y79C(1) breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(11)|ovary(2)|urinary_tract(1) 21 TTCAAAACGGTATCCTGATTT 0.378000 15 63 0 0 0.132662 0 0 LAMC3 10319 broad.mit.edu 37 9 133927972 133927972 + Silent SNP G G C TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr9:133927972G>C ENST00000361069.4 + 10 1858 c.1725G>C c.(1723-1725)ctG>ctC p.L575L LAMC3_ENST00000480883.1_Intron NM_006059.3 NP_006050.3 Q9Y6N6 LAMC3_HUMAN laminin, gamma 3 575 Laminin IV type A. cell adhesion basement membrane|membrane structural molecule activity p.L575L(1) endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(31)|ovary(3)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3) 69 all_hematologic(7;0.0028) Myeloproliferative disorder(178;0.204) OV - Ovarian serous cystadenocarcinoma(145;5.06e-05)|Epithelial(140;0.000551) CTGTACAGCTGAGGCTGGAAG 0.642000 OREG0019556 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 12 53 0 0 0.033300 0 0 TRABD2A 129293 broad.mit.edu 37 2 85097589 85097589 + Silent SNP G G A TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr2:85097589G>A ENST00000335459.5 - 2 634 c.429C>T c.(427-429)cgC>cgT p.R143R TRABD2A_ENST00000409520.2_Silent_p.R143R|TRABD2A_ENST00000409133.1_Silent_p.R143R NM_001080824.1 NP_001074293.1 TraB domain containing 2A p.R143R(2) GCCCCTTGCCGCGCTGGTCTG 0.582000 27 49 0 0 0.108266 0 0 UBE3B 89910 broad.mit.edu 37 12 109921406 109921406 + Missense_Mutation SNP G G A TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr12:109921406G>A ENST00000342494.3 + 3 645 c.50G>A c.(49-51)cGt>cAt p.R17H UBE3B_ENST00000340074.5_Missense_Mutation_p.R17H|UBE3B_ENST00000536398.1_Missense_Mutation_p.R17H|UBE3B_ENST00000434735.2_Missense_Mutation_p.R17H|UBE3B_ENST00000540230.1_Missense_Mutation_p.R17H|UBE3B_ENST00000280774.5_Missense_Mutation_p.R17H|UBE3B_ENST00000537063.1_Missense_Mutation_p.R17H NM_130466.3 NP_569733.2 Q7Z3V4 UBE3B_HUMAN ubiquitin protein ligase E3B 17 protein ubiquitination involved in ubiquitin-dependent protein catabolic process intracellular ubiquitin-protein ligase activity p.R17H(1) NS(1)|breast(3)|endometrium(6)|kidney(4)|large_intestine(7)|lung(20)|ovary(2)|urinary_tract(2) 45 GATAGAGCCCGTCAGGCACGA 0.542000 4 145 0 0 0.009096 0 0 MYBPC3 4607 broad.mit.edu 37 11 47364473 47364473 + Silent SNP G G A TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr11:47364473G>A ENST00000545968.1 - 16 1419 c.1365C>T c.(1363-1365)ctC>ctT p.L455L MYBPC3_ENST00000256993.4_Silent_p.L454L|MYBPC3_ENST00000399249.2_Silent_p.L455L NM_000256.3 NP_000247.2 Q14896 MYPC3_HUMAN myosin binding protein C, cardiac 454 Ig-like C2-type 3. cardiac muscle contraction|cell adhesion|muscle filament sliding|regulation of muscle filament sliding|regulation of striated muscle contraction|ventricular cardiac muscle tissue morphogenesis C zone|cytosol|striated muscle myosin thick filament actin binding|ATPase activator activity|metal ion binding|myosin heavy chain binding|structural constituent of muscle|titin binding p.L455L(1) breast(2)|central_nervous_system(2)|endometrium(9)|kidney(1)|large_intestine(4)|lung(16)|ovary(3)|prostate(3)|urinary_tract(2) 42 Lung(87;0.176) GGCGCGTGATGAGCACAGGGG 0.632000 3 10 0 0 0.115264 0 0 CEP170P1 645455 broad.mit.edu 37 4 119444500 119444500 + RNA SNP G G A TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr4:119444500G>A ENST00000412784.2 + 0 73 NR_003135.2 CTTGCAGAGCGCTGGATCAGC 0.468000 7 3 0 0 0.047766 0 0 CPXM1 56265 broad.mit.edu 37 20 2777020 2777020 + Missense_Mutation SNP A A T TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr20:2777020A>T ENST00000380605.2 - 9 1179 c.1115T>A c.(1114-1116)cTc>cAc p.L372H NM_001184699.1|NM_019609.4 NP_001171628.1|NP_062555.1 Q96SM3 CPXM1_HUMAN carboxypeptidase X (M14 family), member 1 372 Poly-Leu. cell adhesion|proteolysis metallocarboxypeptidase activity|zinc ion binding p.L372H(1) endometrium(5)|kidney(5)|large_intestine(8)|lung(17)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 43 CTGCATCAGGAGCAGAAGCAA 0.642000 11 86 0 0 0.069234 0 0 COL11A1 1301 broad.mit.edu 37 1 103544384 103544384 + Silent SNP T T C rs150668398 TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr1:103544384T>C ENST00000358392.2 - 3 635 c.318A>G c.(316-318)aaA>aaG p.K106K COL11A1_ENST00000370096.3_Silent_p.K106K|COL11A1_ENST00000512756.1_Silent_p.K106K|COL11A1_ENST00000353414.4_Silent_p.K106K NM_080629.2 NP_542196.2 P12107 COBA1_HUMAN collagen, type XI, alpha 1 106 TSP N-terminal. collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception collagen type XI extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging p.K106K(2) NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1) 258 all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181) Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248) CTTTTTTTGGTTTTACTGTAA 0.333000 13 39 0 0 0.093190 0 0 TRABD2A 129293 broad.mit.edu 37 2 85097649 85097649 + Silent SNP G G A TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr2:85097649G>A ENST00000335459.5 - 2 574 c.369C>T c.(367-369)ctC>ctT p.L123L TRABD2A_ENST00000409520.2_Silent_p.L123L|TRABD2A_ENST00000409133.1_Silent_p.L123L NM_001080824.1 NP_001074293.1 TraB domain containing 2A p.L123L(2) GGTGGCGCTTGAGGCGGCAGT 0.572000 17 26 0 0 0.038395 0 0 EPN3 55040 broad.mit.edu 37 17 48618412 48618412 + Missense_Mutation SNP C C T TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr17:48618412C>T ENST00000268933.3 + 7 1817 c.1238C>T c.(1237-1239)tCc>tTc p.S413F EPN3_ENST00000541226.1_3'UTR|EPN3_ENST00000537145.1_Missense_Mutation_p.S441F NM_017957.2 NP_060427.2 Q9H201 EPN3_HUMAN epsin 3 413 clathrin-coated vesicle|nucleus|perinuclear region of cytoplasm lipid binding p.S413F(1) breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(1)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 14 Breast(11;1.23e-18) BRCA - Breast invasive adenocarcinoma(22;2.88e-09) CTGGAGACCTCCGACACACCT 0.637000 15 16 0 0 0.033300 0 0 MARVELD3 91862 broad.mit.edu 37 16 71668136 71668136 + Missense_Mutation SNP C C T TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr16:71668136C>T ENST00000567501.1 + 3 268 c.76C>T c.(76-78)Cct>Tct p.P26S MARVELD3_ENST00000565261.1_Intron|MARVELD3_ENST00000299952.4_Intron|MARVELD3_ENST00000268485.3_Silent_p.I212I Q96A59 MALD3_HUMAN MARVEL domain containing 3 0 Arg-rich. integral to membrane p.I212I(1) NS(1)|endometrium(3)|large_intestine(5)|lung(6)|skin(2) 17 Ovarian(137;0.125) ACTTGCTGATCCTGGCCTGCA 0.527000 178 99 0 0 0.139131 0 0 ORMDL1 94101 broad.mit.edu 37 2 190636562 190636562 + Silent SNP G G C TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr2:190636562G>C ENST00000325795.3 - 3 1179 c.393C>G c.(391-393)ctC>ctG p.L131L ORMDL1_ENST00000496543.1_5'UTR|ORMDL1_ENST00000392350.3_Silent_p.L131L|ORMDL1_ENST00000392349.4_Silent_p.L131L Q9P0S3 ORML1_HUMAN ORM1-like 1 (S. cerevisiae) 131 ceramide metabolic process endoplasmic reticulum membrane|integral to membrane p.L131L(1) breast(1)|urinary_tract(1) 2 OV - Ovarian serous cystadenocarcinoma(117;0.00177)|Epithelial(96;0.0317)|all cancers(119;0.0889) GTACACTCAGGAGAGAAGCTG 0.313000 13 88 0 0 0.105934 0 0 ZIC2 7546 broad.mit.edu 37 13 100635308 100635308 + Missense_Mutation SNP G G C TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr13:100635308G>C ENST00000376335.3 + 1 1283 c.990G>C c.(988-990)gaG>gaC p.E330D NM_007129.3 NP_009060.2 O95409 ZIC2_HUMAN Zic family member 2 330 brain development|negative regulation of transcription, DNA-dependent|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|visual perception cytoplasm|nucleus chromatin DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.E330D(1) large_intestine(2)|liver(2)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 13 all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184) ACACAGGCGAGAAACCCTTCC 0.607000 5 114 0 0 0.014758 0 0 STK10 6793 broad.mit.edu 37 5 171523528 171523528 + Missense_Mutation SNP G G T TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr5:171523528G>T ENST00000176763.5 - 8 1250 c.907C>A c.(907-909)Ctg>Atg p.L303M NM_005990.3 NP_005981.3 O94804 STK10_HUMAN serine/threonine kinase 10 303 ATP binding|protein serine/threonine kinase activity p.L303M(1) breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(6)|pancreas(1)|prostate(1)|testis(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 47 Renal(175;0.000159)|Lung NSC(126;0.0056)|all_lung(126;0.0094) Medulloblastoma(196;0.00868)|all_neural(177;0.026) Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516) AGCTCCCGCAGAGCCTTGTTA 0.627000 6 124 0.00198382 0.0020416 0.029380 1 0 TGS1 96764 broad.mit.edu 37 8 56715061 56715061 + Missense_Mutation SNP A A C TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr8:56715061A>C ENST00000260129.5 + 9 2372 c.1895A>C c.(1894-1896)aAt>aCt p.N632T NM_024831.6 NP_079107.6 Q96RS0 TGS1_HUMAN trimethylguanosine synthase 1 632 Sufficient for catalytic activity. cellular lipid metabolic process|ncRNA metabolic process|regulation of transcription, DNA-dependent|RNA capping|spliceosomal snRNP assembly|transcription, DNA-dependent Cajal body|cytosol RNA trimethylguanosine synthase activity p.N632T(1) breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(10)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 29 all_lung(136;0.119)|all_epithelial(80;0.125)|Lung NSC(129;0.147) Epithelial(17;0.00027)|all cancers(17;0.00251) aaaaagGTGAATGGTCTGCCT 0.388000 11 49 0 0 0.069234 0 0 LGALS13 29124 broad.mit.edu 37 19 40095312 40095312 + Missense_Mutation SNP C C G TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr19:40095312C>G ENST00000221797.4 + 2 131 c.86C>G c.(85-87)tCt>tGt p.S29C NM_013268.2 NP_037400.1 Q9UHV8 PP13_HUMAN lectin, galactoside-binding, soluble, 13 29 Galectin. lipid catabolic process|phospholipid metabolic process carboxylesterase activity|lysophospholipase activity|sugar binding p.S29C(1) lung(5)|ovary(1)|urinary_tract(1) 7 all_cancers(60;1.77e-05)|all_lung(34;5.38e-08)|Lung NSC(34;6.37e-08)|Ovarian(47;0.116) Epithelial(26;3.28e-26)|OV - Ovarian serous cystadenocarcinoma(5;7.31e-25)|all cancers(26;1.15e-23)|LUSC - Lung squamous cell carcinoma(53;0.00281) CCAATCCACTCTTTTATGTGA 0.453000 106 140 0 0 0.139131 0 0 HIPK4 147746 broad.mit.edu 37 19 40886914 40886914 + Silent SNP C C T TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr19:40886914C>T ENST00000291823.2 - 3 1268 c.984G>A c.(982-984)ctG>ctA p.L328L NM_144685.3 NP_653286.2 Q8NE63 HIPK4_HUMAN homeodomain interacting protein kinase 4 328 Protein kinase. cytoplasm ATP binding|protein serine/threonine kinase activity p.L328L(1)|p.L253L(1) breast(1)|endometrium(5)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1) 20 Lung(22;4.95e-05)|LUSC - Lung squamous cell carcinoma(20;0.000292) ACTCCCAGGTCAGCATGCGCT 0.647000 4 109 0 0 0.009096 0 0 DISP1 84976 broad.mit.edu 37 1 223177617 223177617 + Missense_Mutation SNP G G C TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr1:223177617G>C ENST00000284476.6 + 8 3042 c.2878G>C c.(2878-2880)Gaa>Caa p.E960Q NM_032890.3 NP_116279.2 Q96F81 DISP1_HUMAN dispatched homolog 1 (Drosophila) 960 diaphragm development|protein homotrimerization|regulation of protein secretion|smoothened signaling pathway basolateral plasma membrane|integral to membrane hedgehog receptor activity|peptide transporter activity p.E960Q(1) breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(20)|lung(25)|prostate(4)|skin(1)|stomach(1)|urinary_tract(5) 69 GBM - Glioblastoma multiforme(131;0.102) TTCGGCCCCTGAAGGCCTCAG 0.507000 3 47 0 0 0.115264 0 0 VASH1 22846 broad.mit.edu 37 14 77242313 77242313 + Silent SNP C C T TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr14:77242313C>T ENST00000167106.4 + 5 1242 c.609C>T c.(607-609)cgC>cgT p.R203R RP11-488C13.6_ENST00000556368.1_RNA|VASH1_ENST00000556038.1_3'UTR NM_014909.4 NP_055724.1 Q7L8A9 VASH1_HUMAN vasohibin 1 203 cell cycle arrest|negative regulation of angiogenesis|negative regulation of blood vessel endothelial cell migration|negative regulation of endothelial cell proliferation endoplasmic reticulum|extracellular space p.R203>?(1)|p.R203R(1) breast(2)|endometrium(1)|large_intestine(1)|lung(1)|prostate(1)|stomach(1)|urinary_tract(3) 10 Kidney(204;0.164) BRCA - Breast invasive adenocarcinoma(234;0.0283) ACTACTTCCGCCACATCGTGC 0.632000 3 7 0 0 0.115264 0 0 ADAMTS3 9508 broad.mit.edu 37 4 73169735 73169735 + Missense_Mutation SNP G G A TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr4:73169735G>A ENST00000286657.4 - 17 2359 c.2323C>T c.(2323-2325)Cgg>Tgg p.R775W NM_014243.2 NP_055058.2 O15072 ATS3_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 3 775 Spacer. collagen catabolic process|collagen fibril organization|proteolysis proteinaceous extracellular matrix heparin binding|metalloendopeptidase activity|zinc ion binding p.R775W(1) NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(33)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 76 Epithelial(6;4.97e-05)|OV - Ovarian serous cystadenocarcinoma(6;5.66e-05)|all cancers(17;0.000486)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154) ATGAAGGTCCGCGACTTGGCT 0.393000 92 161 0 0 0.139131 0 0 SLC25A10 1468 broad.mit.edu 37 17 79674028 79674028 + Missense_Mutation SNP C C G TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr17:79674028C>G ENST00000571730.1 + 4 569 c.438C>G c.(436-438)atC>atG p.I146M MRPL12_ENST00000333676.3_Missense_Mutation_p.I146M|SLC25A10_ENST00000541223.1_Missense_Mutation_p.I146M Q9UBX3 DIC_HUMAN solute carrier family 25 (mitochondrial carrier; dicarboxylate transporter), member 10 0 gluconeogenesis|mitochondrial transport integral to membrane|mitochondrial inner membrane|nucleus protein binding p.I146M(1) endometrium(1)|lung(9)|ovary(1)|prostate(1)|skin(2) 14 all_neural(118;0.0878)|Ovarian(332;0.12)|all_lung(278;0.23) BRCA - Breast invasive adenocarcinoma(99;0.0117)|OV - Ovarian serous cystadenocarcinoma(97;0.0955) Succinic acid(DB00139) TGAAGCTGATCAAGGAAATCA 0.582000 5 54 0 0 0.014758 0 0 SLC35F3 148641 broad.mit.edu 37 1 234367379 234367379 + Missense_Mutation SNP T T C TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr1:234367379T>C ENST00000366618.3 + 3 645 c.500T>C c.(499-501)tTc>tCc p.F167S SLC35F3_ENST00000366617.3_Missense_Mutation_p.F98S NM_173508.2 NP_775779.1 Q8IY50 S35F3_HUMAN solute carrier family 35, member F3 98 transport integral to membrane p.F167S(1) breast(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|urinary_tract(1) 32 Ovarian(103;0.0454) all_cancers(173;0.145)|Prostate(94;0.0885) OV - Ovarian serous cystadenocarcinoma(106;0.00531) GACGCGCCCTTCACCCTCACG 0.587000 17 134 0 0 0.043863 0 0 OR9Q1 219956 broad.mit.edu 37 11 57946980 57946980 + Missense_Mutation SNP G G A TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr11:57946980G>A ENST00000335397.3 + 3 380 c.64G>A c.(64-66)Gaa>Aaa p.E22K NM_001005212.3 NP_001005212.1 Q8NGQ5 OR9Q1_HUMAN olfactory receptor, family 9, subfamily Q, member 1 22 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.E22K(1) cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|liver(1)|lung(12)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 26 Breast(21;0.222) TGAATATCCTGAATGGGCACT 0.453000 10 144 0 0 0.069234 0 0 IGHV1-18 28468 broad.mit.edu 37 14 106641716 106641716 + RNA SNP C C G TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr14:106641716C>G ENST00000390605.2 - 0 256 TCCATCCCATCCACTCAAGCC 0.547000 8 234 0 0 0.047766 0 0 ELF3 1999 broad.mit.edu 37 1 201981201 201981201 + Missense_Mutation SNP C C G TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr1:201981201C>G ENST00000359651.3 + 2 3472 c.280C>G c.(280-282)Cga>Gga p.R94G ELF3_ENST00000367284.5_Missense_Mutation_p.R94G|ELF3_ENST00000367283.3_Missense_Mutation_p.R94G|RP11-510N19.5_ENST00000504773.1_RNA|ELF3_ENST00000495848.1_3'UTR P78545 ELF3_HUMAN E74-like factor 3 (ets domain transcription factor, epithelial-specific ) 94 PNT. epidermis development|epithelial cell differentiation|inflammatory response|mammary gland involution|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter Golgi apparatus|nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity p.R94G(2) breast(2)|endometrium(2)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 20 TGACTTCTCACGATGTGACAT 0.582000 7 83 0 0 0.038147 0 0 URGCP 55665 broad.mit.edu 37 7 43917868 43917868 + Silent SNP C C G TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr7:43917868C>G ENST00000336086.6 - 4 3301 c.1065G>C c.(1063-1065)ctG>ctC p.L355L URGCP_ENST00000497914.1_5'UTR|URGCP_ENST00000447717.3_Silent_p.L355L|URGCP_ENST00000402306.3_Silent_p.L389L|URGCP-MRPS24_ENST00000603700.1_Intron|URGCP_ENST00000453200.1_Silent_p.L398L|URGCP_ENST00000443736.1_Silent_p.L355L|URGCP_ENST00000223341.7_Silent_p.L355L Q8TCY9 URGCP_HUMAN upregulator of cell proliferation 398 cell cycle centrosome|nucleus GTP binding p.L398L(1)|p.L355L(1) breast(3)|endometrium(4)|kidney(2)|large_intestine(3)|liver(1)|lung(13)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 34 TCAGAAATCTCAGGTTTGTGT 0.448000 8 210 0 0 0.058154 0 0 YIPF1 54432 broad.mit.edu 37 1 54343992 54343992 + Silent SNP G G T TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr1:54343992G>T ENST00000072644.1 - 6 696 c.360C>A c.(358-360)ctC>ctA p.L120L YIPF1_ENST00000539954.1_Silent_p.L145L|YIPF1_ENST00000371399.1_5'UTR|YIPF1_ENST00000469457.1_5'UTR NM_018982.4 NP_061855.1 Q9Y548 YIPF1_HUMAN Yip1 domain family, member 1 120 integral to membrane|transport vesicle p.L120L(1) endometrium(2)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|skin(1)|urinary_tract(2) 19 ACATACCATAGAGATCTGGAT 0.423000 5 172 1.024e-07 1.10759e-07 0.014758 1 0 L1CAM 3897 broad.mit.edu 37 X 153128148 153128148 + Silent SNP G G A TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chrX:153128148G>A ENST00000370060.1 - 29 3933 c.3744C>T c.(3742-3744)tcC>tcT p.S1248S L1CAM_ENST00000370057.3_Silent_p.S1248S|L1CAM_ENST00000543994.1_Silent_p.S1250S|L1CAM_ENST00000370055.1_Silent_p.S1239S|L1CAM_ENST00000361981.3_Silent_p.S1239S|L1CAM_ENST00000361699.4_Silent_p.S1244S|L1CAM_ENST00000538883.1_Silent_p.S1246S NM_001278116.1 NP_001265045.1 P32004 L1CAM_HUMAN L1 cell adhesion molecule 1248 axon guidance|blood coagulation|cell death|leukocyte migration integral to membrane p.S1248S(1) NS(1)|breast(4)|central_nervous_system(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|liver(1)|lung(31)|ovary(13)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 81 all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05) GGTTGATGGGGGAAGTGGCCC 0.607000 4 59 0 0 0.009096 0 0 SGOL2 151246 broad.mit.edu 37 2 201436243 201436243 + Missense_Mutation SNP G G C TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr2:201436243G>C ENST00000357799.4 + 7 1272 c.1174G>C c.(1174-1176)Gaa>Caa p.E392Q NM_001160033.1|NM_001160046.1|NM_152524.5 NP_001153505.1|NP_001153518.1|NP_689737.4 Q562F6 SGOL2_HUMAN shugoshin-like 2 (S. pombe) 392 cell division|mitotic prometaphase condensed chromosome kinetochore|cytosol|mitotic cohesin complex protein binding p.E392Q(1) NS(2)|breast(2)|cervix(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2) 46 AAAAACAAATGAACATGGAAT 0.318000 8 46 0 0 0.038147 0 0 TIMMDC1 51300 broad.mit.edu 37 3 119217621 119217621 + Missense_Mutation SNP G G A TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr3:119217621G>A ENST00000494664.1 + 1 243 c.41G>A c.(40-42)aGa>aAa p.R14K TIMMDC1_ENST00000493694.1_Missense_Mutation_p.R14K NM_016589.3 NP_057673.2 Q9NPL8 TIDC1_HUMAN translocase of inner mitochondrial membrane domain containing 1 14 integral to membrane|mitochondrial inner membrane protein transporter activity p.R14K(1) autonomic_ganglia(1)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|stomach(1)|urinary_tract(1) 15 TTTCTCTGTAGAGCATTGTGC 0.592000 27 196 0 0 0.144211 0 0 INHBA 3624 broad.mit.edu 37 7 41739709 41739709 + Silent SNP T T C TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr7:41739709T>C ENST00000242208.4 - 2 510 c.264A>G c.(262-264)agA>agG p.R88R INHBA-AS1_ENST00000415848.2_RNA|INHBA_ENST00000442711.1_Silent_p.R88R|AC005027.3_ENST00000416150.1_RNA|INHBA-AS1_ENST00000420821.1_RNA|INHBA-AS1_ENST00000422822.1_RNA NM_002192.2 NP_002183.1 P08476 INHBA_HUMAN inhibin, beta A 88 cell cycle arrest|cell surface receptor linked signaling pathway|defense response|erythrocyte differentiation|eyelid development in camera-type eye|G1/S transition of mitotic cell cycle|growth|hair follicle development|hemoglobin biosynthetic process|hemopoietic progenitor cell differentiation|induction of apoptosis|male gonad development|negative regulation of B cell differentiation|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of follicle-stimulating hormone secretion|negative regulation of interferon-gamma biosynthetic process|negative regulation of macrophage differentiation|negative regulation of phosphorylation|nervous system development|odontogenesis|ovarian follicle development|palate development|positive regulation of erythrocyte differentiation|positive regulation of follicle-stimulating hormone secretion|positive regulation of ovulation|positive regulation of transcription from RNA polymerase II promoter|progesterone secretion|regulation of activin receptor signaling pathway activin A complex|inhibin A complex cytokine activity|follistatin binding|growth factor activity|hormone activity|identical protein binding|signal transducer activity p.R88R(1) biliary_tract(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(15)|lung(26)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 55 CATGAAGCTTTCTGATCGCGT 0.522000 TSP Lung(11;0.080) 18 482 0 0 0.049695 0 0 PLCG1 5335 broad.mit.edu 37 20 39802821 39802821 + Missense_Mutation SNP G G C TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr20:39802821G>C ENST00000373272.2 + 31 4108 c.3703G>C c.(3703-3705)Gat>Cat p.D1235H PLCG1_ENST00000244007.3_Missense_Mutation_p.D1235H|PLCG1_ENST00000608689.1_3'UTR|PLCG1_ENST00000373271.1_Missense_Mutation_p.D1234H NM_002660.2 NP_002651.2 P19174 PLCG1_HUMAN phospholipase C, gamma 1 1234 activation of phospholipase C activity|axon guidance|blood coagulation|cellular response to epidermal growth factor stimulus|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|interspecies interaction between organisms|intracellular signal transduction|leukocyte migration|nerve growth factor receptor signaling pathway|phospholipid catabolic process|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of epithelial cell migration|T cell receptor signaling pathway cytosol|lamellipodium|plasma membrane|ruffle calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|receptor signaling protein activity p.D1235H(1) breast(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(16)|skin(6)|urinary_tract(2) 46 Myeloproliferative disorder(115;0.00878) GCGGGGCTCAGATGCCTCAGG 0.597000 9 76 0 0 0.047766 0 0 C16orf62 57020 broad.mit.edu 37 16 19693640 19693640 + Missense_Mutation SNP C C T TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr16:19693640C>T ENST00000438132.3 + 28 2770 c.2722C>T c.(2722-2724)Cgc>Tgc p.R908C C16orf62_ENST00000448695.1_Missense_Mutation_p.R669C|C16orf62_ENST00000543152.1_Missense_Mutation_p.R568C|C16orf62_ENST00000542263.1_Missense_Mutation_p.R815C|C16orf62_ENST00000251143.5_Missense_Mutation_p.R819C|C16orf62_ENST00000417362.2_Missense_Mutation_p.R726C NM_020314.5 NP_064710.4 Q7Z3J2 CP062_HUMAN chromosome 16 open reading frame 62 819 integral to membrane p.R819S(1)|p.R908C(1)|p.R819C(1)|p.R908S(1) breast(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2) 36 TGAGAAAATCCGCATCTACAC 0.532000 8 88 0 0 0.047766 0 0 AKAP10 11216 broad.mit.edu 37 17 19861601 19861601 + Missense_Mutation SNP A A T TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr17:19861601A>T ENST00000225737.6 - 4 760 c.603T>A c.(601-603)gaT>gaA p.D201E AKAP10_ENST00000395536.3_Missense_Mutation_p.D201E NM_007202.3 NP_009133.2 O43572 AKA10_HUMAN A kinase (PRKA) anchor protein 10 201 RGS 1. blood coagulation|protein localization cytosol|mitochondrion|plasma membrane signal transducer activity p.D201E(1) NS(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(3)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(2) 21 all_cancers(12;2.08e-05)|all_epithelial(12;0.00158)|Breast(13;0.165) TATCAAGAGAATCAGTTAAAA 0.408000 12 37 0 0 0.093190 0 0 CHAF1A 10036 broad.mit.edu 37 19 4409533 4409533 + Missense_Mutation SNP T T G TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr19:4409533T>G ENST00000301280.5 + 3 838 c.737T>G c.(736-738)tTg>tGg p.L246W NM_005483.2 NP_005474 Q13111 CAF1A_HUMAN chromatin assembly factor 1, subunit A (p150) 246 Binds to CBX1 chromo shadow domain. cell cycle|DNA repair|DNA replication|DNA replication-dependent nucleosome assembly|protein complex assembly|regulation of transcription, DNA-dependent|transcription, DNA-dependent CAF-1 complex|WINAC complex chromatin binding|chromo shadow domain binding|unfolded protein binding p.L246W(1) breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1) 27 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0148)|STAD - Stomach adenocarcinoma(1328;0.18) CAGGACATCTTGGCTGTGAGA 0.562000 Chromatin Structure 7 32 0 0 0.038147 0 0 CSMD3 114788 broad.mit.edu 37 8 113358347 113358347 + Missense_Mutation SNP T T G TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr8:113358347T>G ENST00000297405.5 - 41 6665 c.6421A>C c.(6421-6423)Ata>Cta p.I2141L CSMD3_ENST00000343508.3_Missense_Mutation_p.I2101L|CSMD3_ENST00000455883.2_Missense_Mutation_p.I2037L|CSMD3_ENST00000352409.3_Missense_Mutation_p.I2071L NM_198123.1 NP_937756.1 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 2141 CUB 12. integral to membrane|plasma membrane p.I2141L(1)|p.I2101L(1) breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7) 646 GGTAGATTTATTGTCCATGTG 0.383000 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 45 167 0 0 0.139131 0 0 STIL 6491 broad.mit.edu 37 1 47716998 47717011 + Frame_Shift_Del DEL CTTGGTTTAAGGTT CTTGGTTTAAGGTT - TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr1:47716998_47717011delCTTGGTTTAAGGTT ENST00000360380.3 - 18 4024_4037 c.3661_3674delAACCTTAAACCAAG c.(3661-3675)aaccttaaaccaagtfs p.NLKPS1221fs STIL_ENST00000396221.2_Frame_Shift_Del_p.NLKPS1204fs|STIL_ENST00000337817.5_Frame_Shift_Del_p.NLKPS1221fs|STIL_ENST00000243182.6_Frame_Shift_Del_p.NLKPS1221fs|STIL_ENST00000371877.3_Frame_Shift_Del_p.NLKPS1222fs NM_001282936.1 NP_001269865.1 Q15468 STIL_HUMAN SCL/TAL1 interrupting locus 1221 cell proliferation|multicellular organismal development centrosome|cytosol central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3) 36 Acute lymphoblastic leukemia(5;0.00116)|all_hematologic(5;0.00444) CACTGCAGGACTTGGTTTAAGGTTCTTTACTAAG 0.402 19 335 --- --- --- --- OR2T35 403244 broad.mit.edu 37 1 248801602 248801603 + Frame_Shift_Ins INS - - CA TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr1:248801602_248801603insCA ENST00000317450.3 - 1 956_957 c.957_958insTG c.(955-960)gtgatcfs p.I320fs NM_001001827.1 NP_001001827.1 Q8NGX2 O2T35_HUMAN olfactory receptor, family 2, subfamily T, member 35 320 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.I320fs*1(1) endometrium(1)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)|skin(1) 6 all_cancers(71;2.04e-05)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) all_cancers(173;0.237) OV - Ovarian serous cystadenocarcinoma(106;0.0265) CCCTTCCTGATCACAGTCGCCA 0.545 2 4 --- --- --- --- TTN 7273 broad.mit.edu 37 2 179595762 179595775 + Frame_Shift_Del DEL ACTGTATCAGTGAC ACTGTATCAGTGAC - TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr2:179595762_179595775delACTGTATCAGTGAC ENST00000589042.1 - 60 17841_17854 c.17617_17630delGTCACTGATACAGT c.(17617-17631)gtcactgatacagtcfs p.VTDTV5873fs TTN_ENST00000460472.2_Intron|TTN_ENST00000591111.1_Frame_Shift_Del_p.VTDTV5556fs|TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Frame_Shift_Del_p.VTDTV4629fs|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 5556 Ig-like 39. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) CAGTATTGAGACTGTATCAGTGACACTGATTTTA 0.393 17 156 --- --- --- --- AP3S1 1176 broad.mit.edu 37 5 115202418 115202421 + Frame_Shift_Del DEL AAGA AAGA - rs80118146 TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr5:115202418_115202421delAAGA ENST00000316788.7 + 2 678_681 c.121_124delAAGA c.(121-126)aagagafs p.KR41fs NM_001284.2 NP_001275.1 Q92572 AP3S1_HUMAN adaptor-related protein complex 3, sigma 1 subunit 41 insulin receptor signaling pathway|intracellular protein transport|vesicle-mediated transport AP-type membrane coat adaptor complex|cytoplasmic vesicle membrane|Golgi apparatus|transport vesicle protein binding|protein transporter activity cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|pancreas(1)|prostate(1) 12 all_cancers(142;0.00377)|all_epithelial(76;0.000129)|Prostate(80;0.0132)|Ovarian(225;0.0776)|Lung NSC(810;0.245) OV - Ovarian serous cystadenocarcinoma(64;1.08e-07)|Epithelial(69;1.11e-06)|all cancers(49;5.2e-05) TTTGGTATCTAAGAGAGATGAAAA 0.304 9 77 --- --- --- --- DHTKD1 55526 broad.mit.edu 37 10 12160750 12160750 + Frame_Shift_Del DEL T T - TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr10:12160750delT ENST00000263035.4 + 15 2467 c.2405delT c.(2404-2406)gttfs p.V802fs NM_018706.5 NP_061176 Q96HY7 DHTK1_HUMAN dehydrogenase E1 and transketolase domain containing 1 802 glycolysis mitochondrion oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(1) 44 Renal(717;0.228) BRCA - Breast invasive adenocarcinoma(52;0.188) TCCAACAGGGTTAAGACCCTC 0.468 22 543 --- --- --- --- TIGD3 220359 broad.mit.edu 37 11 65124558 65124558 + Frame_Shift_Del DEL C C - TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr11:65124558delC ENST00000309880.5 + 2 1486 c.1279delC c.(1279-1281)cccfs p.P427fs NM_145719.2 NP_663771.1 Q6B0B8 TIGD3_HUMAN tigger transposable element derived 3 427 regulation of transcription, DNA-dependent chromosome, centromeric region|nucleus DNA binding endometrium(3)|large_intestine(1)|lung(9)|prostate(2)|skin(2) 17 TGCCTTTGAGCCCCTGCCCAC 0.562 48 34 --- --- --- --- KIAA1551 55196 broad.mit.edu 37 12 32136793 32136794 + Frame_Shift_Ins INS - - C TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr12:32136793_32136794insC ENST00000312561.4 + 4 3318_3319 c.2904_2905insC c.(2905-2907)atafs p.I969fs KIAA1551_ENST00000535596.1_Intron NM_018169.3 NP_060639 KIAA1551 TTTCACATAAAATATGTGATCA 0.351 10 115 --- --- --- --- PDXDC2P 283970 broad.mit.edu 37 16 70072983 70072984 + RNA INS - - T TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr16:70072983_70072984insT ENST00000531894.1 - 0 333 NR_003610.1 GTTGCTTCAAGTTTTTTTTTTT 0.376 2 4 --- --- --- --- GHDC 84514 broad.mit.edu 37 17 40342704 40342704 + Frame_Shift_Del DEL G G - TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr17:40342704delG ENST00000301671.8 - 7 1667 c.1226delC c.(1225-1227)gcafs p.A409fs GHDC_ENST00000587427.1_Frame_Shift_Del_p.A409fs|GHDC_ENST00000428494.2_Frame_Shift_Del_p.A370fs|GHDC_ENST00000593209.1_Frame_Shift_Del_p.A409fs|GHDC_ENST00000414034.3_Frame_Shift_Del_p.A409fs|GHDC_ENST00000436923.2_Frame_Shift_Del_p.A409fs Q8N2G8 GHDC_HUMAN GH3 domain containing 409 endoplasmic reticulum|nuclear envelope central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 13 all_cancers(22;0.000229)|Breast(137;0.00104)|all_epithelial(22;0.00304) BRCA - Breast invasive adenocarcinoma(366;0.124) CTGCCCCACTGCCCGGCCCAG 0.637 20 22 --- --- --- --- LRRC37A16P 651250 broad.mit.edu 37 17 66141032 66141032 + RNA DEL C C - rs76883902 by1000genomes TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chr17:66141032delC ENST00000590019.1 - 0 70 AAAAAAAAAACATAAGCCAAA 0.338 7 75 --- --- --- --- KDM6A 7403 broad.mit.edu 37 X 44941860 44941861 + Frame_Shift_Ins INS - - A TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b36e672b-c5d8-4481-bbb3-7be805215212 d99033c8-519c-4dca-b4c4-0d77b418a7ff g.chrX:44941860_44941861insA ENST00000377967.4 + 21 3225_3226 c.3184_3185insA c.(3184-3186)gatfs p.D1062fs KDM6A_ENST00000382899.4_Frame_Shift_Ins_p.D1069fs|KDM6A_ENST00000543216.1_Frame_Shift_Ins_p.D983fs|KDM6A_ENST00000536777.1_Frame_Shift_Ins_p.D1017fs NM_021140.2 NP_066963.2 O15550 KDM6A_HUMAN lysine (K)-specific demethylase 6A 1062 histone H3-K4 methylation metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen p.0?(6) NS(1)|breast(7)|central_nervous_system(27)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(24)|kidney(24)|large_intestine(9)|liver(1)|lung(21)|oesophagus(11)|pancreas(2)|prostate(5)|skin(1)|soft_tissue(1)|urinary_tract(29) 170 AGACCACTCAGATAGTGAATCT 0.317 """D, N, F, S""" """renal, oesophageal SCC, MM""" 44 95 --- --- --- ---